Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia

This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care. This case report underlines the importance of molecular characteriz...

Full description

Saved in:
Bibliographic Details
Published inClinical case reports Vol. 9; no. 2; pp. 769 - 774
Main Authors Zepeda‐Mendoza, Cinthya J., Essendrup, Anna, Smoley, Stephanie A., Johnson, Sarah H., Hoppman, Nicole L, Vasmatzis, George, Jackson, Daniel L., Kearney, Hutton M., Baughn, Linda B.
Format Journal Article
LanguageEnglish
Published England John Wiley & Sons, Inc 01.02.2021
John Wiley and Sons Inc
Wiley
Subjects
Case Report
Case Reports
Chromosomes
dextrocardia
duplication
Fetuses
Gene expression
Genomes
Genotype & phenotype
heterotaxy
mate pair
Mutation
Pathogenesis
Pregnancy
SMAD2
Ultrasonic imaging
SMAD2
mate pair
dextrocardia
heterotaxy
duplication
Online AccessGet full text

Cover

Abstract This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care. This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.
AbstractList This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.
Abstract This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.
This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care. This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.
Abstract This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.
Author Kearney, Hutton M.
Zepeda‐Mendoza, Cinthya J.
Smoley, Stephanie A.
Baughn, Linda B.
Hoppman, Nicole L
Vasmatzis, George
Jackson, Daniel L.
Essendrup, Anna
Johnson, Sarah H.
AuthorAffiliation 5 Department of Obstetrics, Gynecology and Women's Health University of Missouri Health Columbia MO USA
4 Department of Molecular Medicine Mayo Clinic Rochester MN USA
1 Cytogenetics and Genomic Microarray Laboratory ARUP Laboratories Salt Lake City UT USA
2 Division of Laboratory Genetics Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN USA
3 Center for Individualized Medicine‐Biomarker Discovery, Mayo Clinic Rochester MN USA
AuthorAffiliation_xml – name: 4 Department of Molecular Medicine Mayo Clinic Rochester MN USA
– name: 2 Division of Laboratory Genetics Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN USA
– name: 1 Cytogenetics and Genomic Microarray Laboratory ARUP Laboratories Salt Lake City UT USA
– name: 5 Department of Obstetrics, Gynecology and Women's Health University of Missouri Health Columbia MO USA
– name: 3 Center for Individualized Medicine‐Biomarker Discovery, Mayo Clinic Rochester MN USA
Author_xml – sequence: 1
  givenname: Cinthya J.
  orcidid: 0000-0002-0434-4965
  surname: Zepeda‐Mendoza
  fullname: Zepeda‐Mendoza, Cinthya J.
  organization: ARUP Laboratories
– sequence: 2
  givenname: Anna
  surname: Essendrup
  fullname: Essendrup, Anna
  organization: Department of Laboratory Medicine and Pathology, Mayo Clinic
– sequence: 3
  givenname: Stephanie A.
  surname: Smoley
  fullname: Smoley, Stephanie A.
  organization: Department of Laboratory Medicine and Pathology, Mayo Clinic
– sequence: 4
  givenname: Sarah H.
  surname: Johnson
  fullname: Johnson, Sarah H.
  organization: Center for Individualized Medicine‐Biomarker Discovery, Mayo Clinic
– sequence: 5
  givenname: Nicole L
  surname: Hoppman
  fullname: Hoppman, Nicole L
  organization: Department of Laboratory Medicine and Pathology, Mayo Clinic
– sequence: 6
  givenname: George
  surname: Vasmatzis
  fullname: Vasmatzis, George
  organization: Mayo Clinic
– sequence: 7
  givenname: Daniel L.
  surname: Jackson
  fullname: Jackson, Daniel L.
  organization: University of Missouri Health
– sequence: 8
  givenname: Hutton M.
  surname: Kearney
  fullname: Kearney, Hutton M.
  organization: Department of Laboratory Medicine and Pathology, Mayo Clinic
– sequence: 9
  givenname: Linda B.
  surname: Baughn
  fullname: Baughn, Linda B.
  email: baughn.linda@mayo.edu
  organization: Department of Laboratory Medicine and Pathology, Mayo Clinic
BackLink https://www.ncbi.nlm.nih.gov/pubmed/33598243$$D View this record in MEDLINE/PubMed
BookMark eNp1kUtvEzEURi1UREvpgj-ALLFikdavmfFskKrwqlQE4rG27th3EkcTO3iclPDrcTqlahesfGUfH9_r7zk5CjEgIS85O-eMiQtrkzyXNdNPyIlgFZuxlqmjB_UxORvHFWOMs0ZUnD0jx1JWrRZKnpD8NWGADAO1S0hgMyb_B7KPgcaeAg1xhwP1YYcpo6PfP1--E9RtN4O3E9Xt6Roy0g34REf8tcVgfViUK-V2j3k70hufl9Th75yiheQ8vCBPexhGPLtbT8nPD-9_zD_Nrr98vJpfXs-skrWegRAKnFaC87pvLLa9UgiNqqGrtC3jMd7ojjnJuLClqoR0tZAda7Ttu5bLU3I1eV2Eldkkv4a0NxG8ud2IaWEgZW8HNF1TSSWw5W2NqtIM6hqUsm0pnKywKq63k2uz7dboLIacYHgkfXwS_NIs4s40um5lc2jm9Z0gxfJLYzaruE2hzG-E0g3nUihRqDcTZVMcx4T9_QucmUPe5pC3OeRd2FcPW7on_6VbgIsJuPED7v9vMvP5N3mr_As0G7YL
Cites_doi 10.1097/00006250-201312000-00042
10.1093/bioinformatics/btu078
10.1038/nature12141
10.1016/j.ajhg.2016.08.022
10.1093/nar/gkv1222
10.1002/humu.22854
10.1016/j.ajhg.2009.03.010
10.1002/gcc.5
10.1097/AOG.0000000000001406
10.1146/annurev.cellbio.19.041603.094522
10.1097/AOG.0000000000001405
10.1016/j.ajhg.2011.03.013
10.1186/s12884-017-1579-y
10.1016/j.cancergen.2017.11.009
10.1016/j.cell.2015.04.004
10.1126/science.286.5440.771
10.1016/j.ajhg.2014.12.017
10.2217/bmm.14.18
10.1038/31693
10.3109/14767058.2014.943659
10.1186/s12881-016-0345-8
ContentType Journal Article
Copyright 2020 The Authors. published by John Wiley & Sons Ltd.
2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.
Copyright_xml – notice: 2020 The Authors. published by John Wiley & Sons Ltd.
– notice: 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
– notice: 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.
DBID 24P
WIN
NPM
AAYXX
CITATION
3V.
7X7
7XB
8FI
8FJ
8FK
ABUWG
AFKRA
AZQEC
BENPR
CCPQU
DWQXO
FYUFA
GHDGH
K9.
M0S
PIMPY
PQEST
PQQKQ
PQUKI
PRINS
5PM
DOA
DOI 10.1002/ccr3.3608
DatabaseName Wiley-Blackwell Open Access Collection
Wiley Online Library Free Content
PubMed
CrossRef
ProQuest Central (Corporate)
Health & Medical Collection
ProQuest Central (purchase pre-March 2016)
Hospital Premium Collection
Hospital Premium Collection (Alumni Edition)
ProQuest Central (Alumni) (purchase pre-March 2016)
ProQuest Central (Alumni)
ProQuest Central
ProQuest Central Essentials
ProQuest Central
ProQuest One Community College
ProQuest Central
Health Research Premium Collection
Health Research Premium Collection (Alumni)
ProQuest Health & Medical Complete (Alumni)
Health & Medical Collection (Alumni Edition)
Publicly Available Content Database
ProQuest One Academic Eastern Edition (DO NOT USE)
ProQuest One Academic
ProQuest One Academic UKI Edition
ProQuest Central China
PubMed Central (Full Participant titles)
DOAJ Directory of Open Access Journals
DatabaseTitle PubMed
CrossRef
Publicly Available Content Database
ProQuest Central Essentials
ProQuest One Academic Eastern Edition
ProQuest Health & Medical Complete (Alumni)
ProQuest Central (Alumni Edition)
ProQuest One Community College
ProQuest Hospital Collection
Health Research Premium Collection (Alumni)
ProQuest Central China
ProQuest Hospital Collection (Alumni)
ProQuest Central
ProQuest Health & Medical Complete
Health Research Premium Collection
ProQuest One Academic UKI Edition
Health and Medicine Complete (Alumni Edition)
ProQuest Central Korea
ProQuest One Academic
ProQuest Central (Alumni)
DatabaseTitleList Publicly Available Content Database

PubMed

CrossRef
Database_xml – sequence: 1
  dbid: DOA
  name: DOAJ Directory of Open Access Journals
  url: https://www.doaj.org/
  sourceTypes: Open Website
– sequence: 2
  dbid: 24P
  name: Wiley-Blackwell Open Access Collection
  url: https://authorservices.wiley.com/open-science/open-access/browse-journals.html
  sourceTypes: Publisher
– sequence: 3
  dbid: NPM
  name: PubMed
  url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
– sequence: 4
  dbid: 7X7
  name: Health & Medical Collection
  url: https://search.proquest.com/healthcomplete
  sourceTypes: Aggregation Database
DeliveryMethod fulltext_linktorsrc
Discipline Medicine
DocumentTitleAlternate ZEPEDA‐MENDOZA et al
EISSN 2050-0904
EndPage 774
ExternalDocumentID oai_doaj_org_article_b75342e9196e4580a66a44c90a6d35e5
10_1002_ccr3_3608
33598243
CCR33608
Genre caseStudy
Case Reports
Report
Case Study
GrantInformation_xml – fundername: Mayo Clinic Department of Laboratory Medicine and Pathology
GroupedDBID 0R~
1OC
24P
53G
5VS
7X7
8-1
8FI
8FJ
AAHHS
AAZKR
ABDBF
ABUWG
ACCFJ
ACXQS
ADBBV
ADKYN
ADRAZ
ADZMN
ADZOD
AEEZP
AEQDE
AFKRA
AIWBW
AJBDE
ALIPV
ALMA_UNASSIGNED_HOLDINGS
ALUQN
AOIJS
AVUZU
BAWUL
BCNDV
BENPR
BPHCQ
BVXVI
CCPQU
DIK
EBS
EJD
FYUFA
GODZA
GROUPED_DOAJ
HMCUK
HYE
HZ~
IAO
IHR
INH
KQ8
M48
M~E
O9-
OK1
PIMPY
PQQKQ
PROAC
RPM
UKHRP
WIN
ITC
NPM
AAYXX
CITATION
3V.
7XB
8FK
AZQEC
DWQXO
K9.
PQEST
PQUKI
PRINS
5PM
ID FETCH-LOGICAL-c4368-a224ad842116f7ce9f44ea746ab58c0500178b0d3012c78b523d623b078cfb913
IEDL.DBID RPM
ISSN 2050-0904
IngestDate Tue Oct 22 15:06:21 EDT 2024
Tue Sep 17 21:15:02 EDT 2024
Thu Oct 10 20:25:43 EDT 2024
Thu Sep 26 18:10:28 EDT 2024
Tue Oct 29 09:08:35 EDT 2024
Sat Aug 24 01:04:45 EDT 2024
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue 2
Keywords SMAD2
mate pair
dextrocardia
heterotaxy
duplication
Language English
License Attribution
2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c4368-a224ad842116f7ce9f44ea746ab58c0500178b0d3012c78b523d623b078cfb913
ORCID 0000-0002-0434-4965
OpenAccessLink https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869371/
PMID 33598243
PQID 2487113242
PQPubID 2034363
PageCount 0
ParticipantIDs doaj_primary_oai_doaj_org_article_b75342e9196e4580a66a44c90a6d35e5
pubmedcentral_primary_oai_pubmedcentral_nih_gov_7869371
proquest_journals_2487113242
crossref_primary_10_1002_ccr3_3608
pubmed_primary_33598243
wiley_primary_10_1002_ccr3_3608_CCR33608
PublicationCentury 2000
PublicationDate February 2021
PublicationDateYYYYMMDD 2021-02-01
PublicationDate_xml – month: 02
  year: 2021
  text: February 2021
PublicationDecade 2020
PublicationPlace England
PublicationPlace_xml – name: England
– name: Bognor Regis
– name: Hoboken
PublicationTitle Clinical case reports
PublicationTitleAlternate Clin Case Rep
PublicationYear 2021
Publisher John Wiley & Sons, Inc
John Wiley and Sons Inc
Wiley
Publisher_xml – name: John Wiley & Sons, Inc
– name: John Wiley and Sons Inc
– name: Wiley
References 2018; 221
2015; 36
2015; 161
2015; 28
2009; 84
2017; 17
2015; 96
2013; 122
1999; 286
2011; 88
2013; 498
2016; 127
2003; 19
2014; 30
2014; 8
2016; 17
1998; 393
2018; 57
2016; 99
2016; 44
e_1_2_11_10_1
e_1_2_11_21_1
e_1_2_11_20_1
e_1_2_11_14_1
e_1_2_11_13_1
e_1_2_11_9_1
e_1_2_11_12_1
e_1_2_11_8_1
e_1_2_11_11_1
e_1_2_11_22_1
e_1_2_11_7_1
e_1_2_11_18_1
e_1_2_11_6_1
e_1_2_11_17_1
e_1_2_11_5_1
e_1_2_11_16_1
e_1_2_11_4_1
e_1_2_11_15_1
e_1_2_11_3_1
e_1_2_11_2_1
e_1_2_11_19_1
References_xml – volume: 127
  start-page: e123
  issue: 5
  year: 2016
  end-page: e137
  article-title: Practice Bulletin No. 163: Screening for Fetal Aneuploidy
  publication-title: Obstet Gynecol
– volume: 122
  start-page: 1374
  issue: 6
  year: 2013
  end-page: 1377
  article-title: Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis
  publication-title: Obstet Gynecol
– volume: 8
  start-page: 499
  issue: 4
  year: 2014
  end-page: 508
  article-title: What does next‐generation sequencing mean for prenatal diagnosis?
  publication-title: Biomark Med
– volume: 36
  start-page: 1145
  issue: 12
  year: 2015
  end-page: 1149
  article-title: SMAD2 mutations are associated with arterial aneurysms and dissections
  publication-title: Hum Mutat
– volume: 127
  start-page: e108
  issue: 5
  year: 2016
  end-page: e122
  article-title: Practice Bulletin No. 162: prenatal diagnostic testing for genetic disorders
  publication-title: Obstet Gynecol
– volume: 17
  start-page: 81
  issue: 1
  year: 2016
  article-title: Clinical utility of array comparative genomic hybridisation in prenatal setting
  publication-title: BMC Med Genet
– volume: 17
  start-page: 393
  issue: 1
  year: 2017
  article-title: Comparing levocardia and dextrocardia in fetuses with heterotaxy syndrome: prenatal features, clinical significance and outcomes
  publication-title: BMC Pregnancy Childbirth
– volume: 393
  start-page: 786
  issue: 6687
  year: 1998
  end-page: 790
  article-title: Smad2 role in mesoderm formation, left‐right patterning and craniofacial development
  publication-title: Nature
– volume: 221
  start-page: 1
  year: 2018
  end-page: 18
  article-title: SVAtools for junction detection of genome‐wide chromosomal rearrangements by mate‐pair sequencing (MPseq)
  publication-title: Cancer Genet
– volume: 30
  start-page: 1627
  issue: 11
  year: 2014
  end-page: 1629
  article-title: BIMA V3: an aligner customized for mate pair library sequencing
  publication-title: Bioinformatics
– volume: 498
  start-page: 220
  issue: 7453
  year: 2013
  end-page: 223
  article-title: De novo mutations in histone‐modifying genes in congenital heart disease
  publication-title: Nature
– volume: 88
  start-page: 469
  issue: 4
  year: 2011
  end-page: 481
  article-title: Next‐generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research
  publication-title: Am J Hum Genet
– volume: 19
  start-page: 589
  year: 2003
  end-page: 621
  article-title: Nodal signaling in vertebrate development
  publication-title: Annu Rev Cell Dev Biol
– volume: 44
  start-page: D862
  issue: D1
  year: 2016
  end-page: D868
  article-title: ClinVar: public archive of interpretations of clinically relevant variants
  publication-title: Nucleic Acids Res
– volume: 99
  start-page: 1015
  issue: 5
  year: 2016
  end-page: 1033
  article-title: Structural chromosomal rearrangements require nucleotide‐level resolution: lessons from next‐generation sequencing in prenatal diagnosis
  publication-title: Am J Hum Genet
– volume: 57
  start-page: 459
  issue: 9
  year: 2018
  end-page: 470
  article-title: Copy number variant analysis using genome‐wide mate‐pair sequencing
  publication-title: Genes Chromosomes Cancer
– volume: 161
  start-page: 1012
  issue: 5
  year: 2015
  end-page: 1025
  article-title: Disruptions of topological chromatin domains cause pathogenic rewiring of gene‐enhancer interactions
  publication-title: Cell
– volume: 286
  start-page: 771
  issue: 5440
  year: 1999
  end-page: 774
  article-title: Negative feedback regulation of TGF‐beta signaling by the SnoN oncoprotein
  publication-title: Science
– volume: 28
  start-page: 1104
  issue: 9
  year: 2015
  end-page: 1107
  article-title: Diagnosis and outcome of pregnancies with prenatally diagnosed fetal dextrocardia
  publication-title: J Matern Fetal Neonatal Med
– volume: 84
  start-page: 524
  issue: 4
  year: 2009
  end-page: 533
  article-title: DECIPHER: database of chromosomal imbalance and phenotype in humans using Ensembl resources
  publication-title: Am J Hum Genet
– volume: 96
  start-page: 208
  issue: 2
  year: 2015
  end-page: 220
  article-title: Next‐generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints
  publication-title: Am J Hum Genet
– ident: e_1_2_11_2_1
  doi: 10.1097/00006250-201312000-00042
– ident: e_1_2_11_11_1
  doi: 10.1093/bioinformatics/btu078
– ident: e_1_2_11_15_1
  doi: 10.1038/nature12141
– ident: e_1_2_11_19_1
  doi: 10.1016/j.ajhg.2016.08.022
– ident: e_1_2_11_22_1
  doi: 10.1093/nar/gkv1222
– ident: e_1_2_11_16_1
  doi: 10.1002/humu.22854
– ident: e_1_2_11_21_1
  doi: 10.1016/j.ajhg.2009.03.010
– ident: e_1_2_11_10_1
  doi: 10.1002/gcc.5
– ident: e_1_2_11_4_1
  doi: 10.1097/AOG.0000000000001406
– ident: e_1_2_11_20_1
  doi: 10.1146/annurev.cellbio.19.041603.094522
– ident: e_1_2_11_3_1
  doi: 10.1097/AOG.0000000000001405
– ident: e_1_2_11_8_1
  doi: 10.1016/j.ajhg.2011.03.013
– ident: e_1_2_11_13_1
  doi: 10.1186/s12884-017-1579-y
– ident: e_1_2_11_9_1
  doi: 10.1016/j.cancergen.2017.11.009
– ident: e_1_2_11_18_1
  doi: 10.1016/j.cell.2015.04.004
– ident: e_1_2_11_17_1
  doi: 10.1126/science.286.5440.771
– ident: e_1_2_11_7_1
  doi: 10.1016/j.ajhg.2014.12.017
– ident: e_1_2_11_5_1
  doi: 10.2217/bmm.14.18
– ident: e_1_2_11_14_1
  doi: 10.1038/31693
– ident: e_1_2_11_12_1
  doi: 10.3109/14767058.2014.943659
– ident: e_1_2_11_6_1
  doi: 10.1186/s12881-016-0345-8
SSID ssj0001072510
Score 2.1963432
Snippet This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide...
Abstract This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting...
Abstract This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting...
SourceID doaj
pubmedcentral
proquest
crossref
pubmed
wiley
SourceType Open Website
Open Access Repository
Aggregation Database
Index Database
Publisher
StartPage 769
SubjectTerms Case Report
Case Reports
Chromosomes
dextrocardia
duplication
Fetuses
Gene expression
Genomes
Genotype & phenotype
heterotaxy
mate pair
Mutation
Pathogenesis
Pregnancy
SMAD2
Ultrasonic imaging
SummonAdditionalLinks – databaseName: DOAJ Directory of Open Access Journals
  dbid: DOA
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV1Lb9QwEB6hHhAXRHkGCrIQBy6hTvxIciwLVYW0HIBKvVl-TMRKKFttd5H4951xsqtdAeLCzUrixPaMM9_Y428A3ihve4LturSy9eSgYCq7NulSql6F0KCvkE8jzz_bi0v96cpc7aX64piwkR54HLjTQHha19iRpqA2rfTWeq1jR4WkDI7spbLbc6by6opsyHDLLZWQrE9jXKl3ynIayT0DlHn6_wQuf4-R3Meu2ficP4D7E2oUZ2Nrj-EODg_h7nzaF38EzMQ08EKMiDsC5vF8pVj2woth-RN_iMXAyZcxia_zsw-1SJvd3rUIvwRBVxTXfrESU3g1GTWqQrV7XG9uBK_YikT_cjJ5Wa0ew-X5x2-zi3LKp1BG5pkvPZlrn1pNPp_tm4hdrzX6RlsfTBulYYvVBplozteRSuSjJkJHgVBE7ENXqSdwNCwHfAaCgEQyhn4GfSDz1ih6bWqQ8ECFJpogC3i9HWR3PdJmuJEguXYsCceSKOA9D__uAWa6zhdI_m6Sv_uX_As42QrPTdPvxtXkhlUVY8UCno5y3H1FZc5CrQpoDiR80IzDO8PieybeblrL9IEFvM268Peeudnsi-LC8__RxRdwr-ZImhwrfgJH69UGXxIUWodXWetvARPRBSQ
  priority: 102
  providerName: Directory of Open Access Journals
– databaseName: ProQuest Central
  dbid: BENPR
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV1Zb9QwEB7BVkK8IG5SCrIQD7yEen0leULt0qpC2goVKvUt8hVYCSXLHpX498wk3m1XHG9WEucae-ab8fgbgLfSmgZhu8oNLy06KDHkVRlUzmUjnSuiHUfajTw9N2eX6tOVvkoBt2VKq9zoxF5Rh85TjPxQILKmquhKfJj_zKlqFK2uphIad2FPoKcgRrB3fHL--eImysILNOB8QynExaH3C_leGionecsQ9Xz9fwOZf-ZK3sawvRE6fQgPEnpkR4O4H8Gd2D6Ge9O0Pv4EiJGppYAM81si5mGfJesaZlnbXccfbNZSEeYY2Jfp0UfBwnq7hs3cL4YQNrK5nS1YSrNG44ZdsHcTV-slo8gtC6jT0fT1w-spXJ6efJ2c5amuQu6Jbz63aLZtKBX6fqYpfKwapaItlLFOl55rslyl4wHnvvDYQl81IEpyiCZ846qxfAajtmvjC2AIKILWqBQah2aukHjbUETEBeOovXY8gzebn1zPB_qMeiBKFjVJoiZJZHBMv397ATFe9we6xbc6TaDaoV-lRKxQY0SlS26NsUr5ChtB6qgzONgIr07TcFnfDJoMng9y3D5F9tyFSmZQ7Eh45zV2z7Sz7z0Bd1EaohHM4F0_Fv79ZfVkciGpsf__t3sJ9wXlyvTZ4AcwWi3W8RWCnZV7nUb0b9xo_tc
  priority: 102
  providerName: ProQuest
– databaseName: Scholars Portal Journals: Open Access(OpenAccess)
  dbid: M48
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwEB5VrVT1gijP0IIsxIFLShI_khwqVBaqCmk5ACv1ZvkVulKVLekuav99Z5xk1RXlws1K4jjxjD3f2ONvAN5xoxqE7SJVWWXQQQk-rSsv0ow33NoymDzQaeTpN3U2E1_P5fkWjDk2hw68ftC1o3xSs-7y6Ob37Ucc8McDgegH5zp-xBUd-d0piI-LIvgGlB-XWrISrXg28grdr7EHuzxy2Am-YZgif_9DoPPv2Mn7mDYapdPH8GhAk-ykF_8-bIX2CexOh_3yp0AMTS0t0DC3Jmbuz12yRcMMaxd_wiWbt5SUOXj2Y3ryuWB-td7TZvaWIaQN7MrMOzaEXaOxwypYuwnL1TWjlVzmcY5HUxjV7RnMTr_8nJylQ56F1BH_fGrQjBtfCfQFVVO6UDdCBFMKZaysXCbJklU28zgXFA5L6Lt6RE0W0YVrbJ3z57DdLtrwEhgCDC8lThKNRbNXcnytLwPihDxIJ22WwNuxk_VVT6ehe-LkQpNQNAklgU_U_esHiAE7Xlh0v_QwoLRFP0sUocYZJAhZZUYpI4SrseC5DDKBw1F4etQqXaB7lueEIRN40ctx3cqoBwmUGxLe-IzNO-38IhJyl5UiWsEE3kdd-Pef6cnkO6fCq_9u5AD2CgqriYHjh7C97FbhNeKipX0Ttf4OZoAMsg
  priority: 102
  providerName: Scholars Portal
– databaseName: Wiley-Blackwell Open Access Collection
  dbid: 24P
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwjV1bi9UwEB6WFcQX8W51lSA--FI3za0tPq1Hl0U4IurCvoXc6h6QnuVcBP-9M2lP14MKvoU26SWTmflmknwBeCmd6RC2q9LwxmGAkmLZNlGVXHbS-zq5KtFu5PlHc3auPlzoiwN4s9sLM_BDTAk30oxsr0nBnV8fX5OGhrCSr6Whjb43iDGGhrdQn64TLLxG3005FsE1p3yE2jELcXE8td7zR5m2_29Y888lk79D2eyLTu_A7RFEspNB6nfhIPX34OZ8nCa_D0TM1FNehoWJj3nYbsmWHXOsX_5I39mip7OYU2Rf5ifvBIvbaSqb-Z8MkWxiV26xYuNqa_Rx2ARbd2mzXTNK4LKIph09YB5lD-D89P3X2Vk5Hq9QBqKdLx16bxcbhSGg6eqQ2k6p5GplnNdNwD5DZW08j2gCRMAShqwRwZJHUBE631byIRz2yz49Boa4ImqNtqHz6O1qiY-NdUJ4UCUdtOcFvNh1sr0aWDTswJcsLEnCkiQKeEvdP1Ug4ut8Ybn6Zkc9sh7DKyVSi4YjKd1wZ4xTKrRYiFInXcDRTnh21Ma1FRiVVRVBxwIeDXKc3iIzhaGSBdR7Et77jP07_eIy83DXjSE2wQJe5bHw7z-zs9lnSYUn_1_1KdwStHwmLxA_gsPNapueIf7Z-Od5nP8C2xX_XA
  priority: 102
  providerName: Wiley-Blackwell
Title Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia
URI https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fccr3.3608
https://www.ncbi.nlm.nih.gov/pubmed/33598243
https://www.proquest.com/docview/2487113242
https://pubmed.ncbi.nlm.nih.gov/PMC7869371
https://doaj.org/article/b75342e9196e4580a66a44c90a6d35e5
Volume 9
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3Na9swFH80HZReRvfttQti7LCLE9uSLPuYpi1l4BK6ZYRdjL7cBVonpEmh_32fZDs0bLvsIgvbsmW9J73fk59-AvhCZVohbGdhGmUSHRRrwjwzLIxoRZUSVsbWrUYurtLLKfs247M94N1aGB-0r9V8UN_eDer5bx9bubzTwy5ObDgpxiJLHY3bsAc9VNBnLrqfWIkE2uyoYxGKkqHWKzqgWJlDOKCesY7RHTPk2fr_BjH_jJR8jmC9Cbo4gpctdiSjpo6vYM_Wr-GgaP-OvwHHx1S76RiitzTMzSpLsqiIJPXiwd6See22YLaGfC9GZwkxm-0fbKIeCQJYS5ZyviJtkDWaNiyCpSu73twTN29LDI7oaPi8cr2F6cX5j_Fl2O6qEGrHNh9KNNrSZAw9v7QS2uYVY1YKlkrFMx1xZ7cyFRns-YnGHHqqBjGSQiyhK5XH9B3s14vafgCCcMJwjkNCpdDICYqPNcIiKogt11xFAXzuGrlcNuQZZUOTnJROKKUTSgCnrvm3Nzi-a39isbopW6mXCr0qltgcxwvLeBbJNJWM6RwzhnLLAzjphFe2nfC-TNAZi2OHGAN438hx-5ZODwIQOxLeqcbuFdRGT7_dal8AX70u_PvLyvH4mrrMx_9-yTEcJi6IxoeJn8D-erWxnxAFrVUfegmbYCpmog8vRj-nv6Z4PD2_mlz3_cwCpgXL-r53PAF4Cg2J
link.rule.ids 230,315,730,783,787,867,888,2109,2228,11576,12070,21402,24332,27938,27939,31733,33758,43324,43819,46066,46490,50828,50937,53806,53808,74081,74638
linkProvider National Library of Medicine
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV1Zb9QwEB5BKwEviLMECliIB15CvbGd4wm1S6sFuitUWqlvlq_ASihZ9kDi3zOTeLddcbxZSZxrxjOfx-NvAF4Lk9cI22Wa89LgBCX4tCq9TLmohbVFMINAu5HHk3x0IT9eqssYcFvEtMq1TewMtW8dxcgPMkTWVBVdZu9mP1KqGkWrq7GExk3YJaoq1Ordo-PJ57OrKAsv0IHzNaUQzw6cm4u3IqdyktccUcfX_zeQ-Weu5HUM2zmhk3twN6JHdtiL-z7cCM0DuDWO6-MPgRiZGgrIMLchYu73WbK2ZoY17c_wnU0bKsIcPPsyPnyfMb_arGEz-4shhA1sZqZzFtOs0blhF-xdh-VqwShyyzzadHR9nXo9gouT4_PhKI11FVJHfPOpQbdtfClx7pfXhQtVLWUwhcyNVaXjijxXabnHsZ85bOFc1SNKsogmXG2rgXgMO03bhCfAEFB4pdAo1BbdXCHwtr4IiAsGQTlleQKv1j9Zz3r6DN0TJWeaJKFJEgkc0e_fXECM192Bdv5VxwGkLc6rZBYqtBhBqpKbPDdSugobXqigEthfC0_HYbjQV0qTwF4vx81TRMddKEUCxZaEt15j-0wz_dYRcBdlTjSCCbzpdOHfX6aHwzNBjaf_f7uXcHt0Pj7Vpx8mn57BnYzyZrrM8H3YWc5X4TkCn6V9EbX7Nx1wAeA
linkToPdf http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV1Zj9MwEB7BIq14QdwEFrAQD7yEprEdJ09o6VItR1cIWKlvlq9AJZSUHkj8e2Zct7sVx5uVO57JfJ_tyTcAz7mpWqTtIq-K2uAAJfi8qb3IC95ya1Uww0B_I0_OqtNz8W4qpyn_aZnSKrcxMQZq3zuaIx-UyKypKrooB21Ki_h4Mn41_5FTBSlaaU3lNK7CNSUQ6NC31VRdzLcUCqG82IoLFeXAuQV_ySsqLHkJkqJy_9_o5p9Zk5fZbISj8U24kXgkO94Y_hZcCd1tOJyklfI7QNpMHU3NMLeTZN78ccn6lhnW9T_DdzbrqBxz8Ozz5PikZH69W81m9hdDMhvY3MwWLCVcI8zhKXh2G1brJaM5XOaxixAEo6PdhfPxmy-j0zxVWMgdKc_nBgHc-FrgKLBqlQtNK0QwSlTGytoVkjCstoXHKFA6bOGo1SNfssgrXGubIb8HB13fhQfAsMe9lBgeWouApzhe1quADGEYpJO2yODZtpP1fCOkoTeSyaUmS2iyRAavqft3B5D2ddzQL77q9ClpiyMsUYYGY0cQsi5MVRkhXIMNz2WQGRxtjafTB7nUF-6Twf2NHXd34VHFUPAM1J6F9x5jf083-xaluFVdkaBgBi-iL_z7zfRo9IlT4-H_n-4pHKJb6w9vz94_guslJdDEFPEjOFgt1uExMqCVfRJd-ze6HwSm
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Prenatal+characterization+of+a+novel+inverted+SMAD2+duplication+by+mate+pair+sequencing+in+a+fetus+with+dextrocardia&rft.jtitle=Clinical+case+reports&rft.au=Zepeda%E2%80%90Mendoza%2C+Cinthya+J.&rft.au=Essendrup%2C+Anna&rft.au=Smoley%2C+Stephanie+A.&rft.au=Johnson%2C+Sarah+H.&rft.date=2021-02-01&rft.pub=John+Wiley+and+Sons+Inc&rft.eissn=2050-0904&rft.volume=9&rft.issue=2&rft.spage=769&rft.epage=774&rft_id=info:doi/10.1002%2Fccr3.3608&rft_id=info%3Apmid%2F33598243&rft.externalDBID=PMC7869371
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=2050-0904&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=2050-0904&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=2050-0904&client=summon