First trimester megacystis caused by a homozygous variant in MYL9

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Published inEuropean journal of obstetrics & gynecology and reproductive biology Vol. 278; pp. 199 - 200
Main Authors Liu, Chuan-Yong, Li, Jin-Fang, Yu, Qiu-Xia, Zhen, Li, Li, Dong-Zhi
Format Journal Article
LanguageEnglish
Published Elsevier B.V 01.11.2022
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Author Li, Dong-Zhi
Liu, Chuan-Yong
Zhen, Li
Li, Jin-Fang
Yu, Qiu-Xia
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Cites_doi 10.1016/j.ajhg.2017.05.011
10.1016/j.jpurol.2016.09.003
10.1002/mgg3.1516
10.1016/S0140-6736(13)60992-7
10.1038/s41431-017-0055-5
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References Moreno, Sobreira, Pugh, Zhang, Steel, Torres (b0015) 2018; 26
Kandler, Sklirou, Woerner, Walsh, Cox, Xue (b0020) 2020; 8
Taghavi, Sharpe, Stringer (b0005) 2017; 13
Morris, Malin, Quinlan-Jones, Middleton, Hemming, Burke (b0025) 2013; 382
Halim, Brosens, Muller, Wangler, Beaudet, Lupski (b0010) 2017; 101
Kandler (10.1016/j.ejogrb.2022.09.007_b0020) 2020; 8
Moreno (10.1016/j.ejogrb.2022.09.007_b0015) 2018; 26
Morris (10.1016/j.ejogrb.2022.09.007_b0025) 2013; 382
Taghavi (10.1016/j.ejogrb.2022.09.007_b0005) 2017; 13
Halim (10.1016/j.ejogrb.2022.09.007_b0010) 2017; 101
References_xml – volume: 382
  start-page: 1496
  year: 2013
  end-page: 1506
  ident: b0025
  article-title: Percutaneous vesicoamniotic shunting in Lower Urinary Tract Obstruction (PLUTO) Collaborative Group. Percutaneous vesicoamniotic shunting versus conservative management for fetal lower urinary tract obstruction (PLUTO): a randomised trial
  publication-title: Lancet
  contributor:
    fullname: Burke
– volume: 8
  start-page: e1516
  year: 2020
  ident: b0020
  article-title: Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome
  publication-title: Mol Genet Genomic Med
  contributor:
    fullname: Xue
– volume: 13
  start-page: 7
  year: 2017
  end-page: 15
  ident: b0005
  article-title: Fetal megacystis: A systematic review
  publication-title: J Pediatr Urol
  contributor:
    fullname: Stringer
– volume: 101
  start-page: 123
  year: 2017
  end-page: 129
  ident: b0010
  article-title: Loss-of-function variants in MYLK cause recessive megacystis microcolon intestinal hypoperistalsis syndrome
  publication-title: Am J Hum Genet
  contributor:
    fullname: Lupski
– volume: 26
  start-page: 669
  year: 2018
  end-page: 675
  ident: b0015
  article-title: Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome
  publication-title: Eur J Hum Genet
  contributor:
    fullname: Torres
– volume: 101
  start-page: 123
  issue: 1
  year: 2017
  ident: 10.1016/j.ejogrb.2022.09.007_b0010
  article-title: Loss-of-function variants in MYLK cause recessive megacystis microcolon intestinal hypoperistalsis syndrome
  publication-title: Am J Hum Genet
  doi: 10.1016/j.ajhg.2017.05.011
  contributor:
    fullname: Halim
– volume: 13
  start-page: 7
  issue: 1
  year: 2017
  ident: 10.1016/j.ejogrb.2022.09.007_b0005
  article-title: Fetal megacystis: A systematic review
  publication-title: J Pediatr Urol
  doi: 10.1016/j.jpurol.2016.09.003
  contributor:
    fullname: Taghavi
– volume: 8
  start-page: e1516
  issue: 11
  year: 2020
  ident: 10.1016/j.ejogrb.2022.09.007_b0020
  article-title: Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome
  publication-title: Mol Genet Genomic Med
  doi: 10.1002/mgg3.1516
  contributor:
    fullname: Kandler
– volume: 382
  start-page: 1496
  issue: 9903
  year: 2013
  ident: 10.1016/j.ejogrb.2022.09.007_b0025
  article-title: Percutaneous vesicoamniotic shunting in Lower Urinary Tract Obstruction (PLUTO) Collaborative Group. Percutaneous vesicoamniotic shunting versus conservative management for fetal lower urinary tract obstruction (PLUTO): a randomised trial
  publication-title: Lancet
  doi: 10.1016/S0140-6736(13)60992-7
  contributor:
    fullname: Morris
– volume: 26
  start-page: 669
  issue: 5
  year: 2018
  ident: 10.1016/j.ejogrb.2022.09.007_b0015
  article-title: Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome
  publication-title: Eur J Hum Genet
  doi: 10.1038/s41431-017-0055-5
  contributor:
    fullname: Moreno
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Title First trimester megacystis caused by a homozygous variant in MYL9
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