PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

Author:

Petit Florence,Longoni Mauro,Wells Julie,Maser Richard S.,Bogenschutz Eric L.,Dysart Matthew J.,Contreras Hannah T.M.,Frénois Frederic,Pober Barbara R.,Clark Robin D.,Giampietro Philip F.,Ropers Hilger H.,Hu Hao,Loscertales Maria,Wagner Richard,Ai Xingbin,Brand Harrison,Jourdain Anne-Sophie,Delrue Marie-Ange,Gilbert-Dussardier Brigitte,Devisme Louise,Keren Boris,McCulley David J.,Qiao Lu,Hernan Rebecca,Wynn Julia,Scott Tiana M.,Calame Daniel G.,Coban-Akdemir Zeynep,Hernandez Patricia,Hernandez-Garcia Andres,Yonath Hagith,Lupski James R.,Shen Yufeng,Chung Wendy K.,Scott Daryl A.,Bult Carol J.,Donahoe Patricia K.,High Frances A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference57 articles.

1. Congenital diaphragmatic hernia overview;Longoni,1993

2. The influence of genetics in congenital diaphragmatic hernia;Yu;Semin. Perinatol.,2020

3. Systematic analysis of copy number variation associated with congenital diaphragmatic hernia;Zhu;Proc. Natl. Acad. Sci. USA,2018

4. De novo copy number variants are associated with congenital diaphragmatic hernia;Yu;J. Med. Genet.,2012

5. Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia;Yu;Hum. Mol. Genet.,2015

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