A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)

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Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 167A; no. 10; pp. 2470 - 2473
Main Authors Lee, Hane, Nevarez, Lisette, Lachman, Ralph S., Wilcox, William R., Krakow, Deborah, Cohn, Daniel H.
Format Journal Article
LanguageEnglish
Published United States Blackwell Publishing Ltd 01.10.2015
Wiley Subscription Services, Inc
Subjects
Dysplasia
Exome
Gene Expression
Genetic Loci
Gestational Age
Homozygote
Humans
Hydrops Fetalis - genetics
Hydrops Fetalis - pathology
Infant, Newborn
Inositol polyphosphate
Inositol polyphosphate 5-phosphatase
Male
Mutation
Osteochondrodysplasias - genetics
Osteochondrodysplasias - pathology
Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases
Phosphoric Monoester Hydrolases - genetics
Stillbirth
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Bibliography:ark:/67375/WNG-RTPJDXHK-P
istex:443C539B8B6A9B72C1EDD56B2684926777FE9440
NIH - No. RO1 DE019567; No. R01 AR062651
NIH/National Center for Advancing Translational Science - No. UL1TR000124
ArticleID:AJMGA37173
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37173