De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism-Reference-Cited by-同舟云学术

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

Published:2020-08 Issue:2 Volume:107 Page:352-363
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Guillen Sacoto Maria J.,Tchasovnikarova Iva A.,Torti Erin,Forster Cara,Andrew E. Hallie,Anselm Irina,Baranano Kristin W.,Briere Lauren C.,Cohen Julie S.,Craigen William J.,Cytrynbaum Cheryl,Ekhilevitch Nina,Elrick Matthew J.,Fatemi Ali,Fraser Jamie L.,Gallagher Renata C.,Guerin Andrea,Haynes Devon,High Frances A.,Inglese Cara N.,Kiss Courtney,Koenig Mary Kay,Krier Joel,Lindstrom Kristin,Marble Michael,Meddaugh Hannah,Moran Ellen S.,Morel Chantal F.,Mu Weiyi,Muller Eric A.,Nance Jessica,Natowicz Marvin R.,Numis Adam L.,Ostrem Bridget,Pappas John,Stafstrom Carl E.,Streff Haley,Sweetser David A.,Szybowska Marta,Walker Melissa A.,Wang Wei,Weiss Karin,Weksberg Rosanna,Wheeler Patricia G.,Yoon Grace,Kingston Robert E.,Juusola Jane

Funder

Common Fund

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference21 articles.

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4. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease;Sevilla;Brain,2016

5. Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan;Ando;Eur. J. Neurol.,2017

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