Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation-Reference-Cited by-同舟云学术

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Published:2019-09 Issue:3 Volume:105 Page:509-525
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Balak Chris,Benard Marianne,Schaefer Elise,Iqbal Sumaiya,Ramsey Keri,Ernoult-Lange Michèle,Mattioli Francesca,Llaci Lorida,Geoffroy Véronique,Courel Maité,Naymik Marcus,Bachman Kristine K.,Pfundt Rolph,Rump Patrick,ter Beest Johanna,Wentzensen Ingrid M.,Monaghan Kristin G.,McWalter Kirsty,Richholt Ryan,Le Béchec Antony,Jepsen Wayne,De Both Matt,Belnap Newell,Boland Anne,Piras Ignazio S.,Deleuze Jean-François,Szelinger Szabolcs,Dollfus Hélène,Chelly Jamel,Muller Jean,Campbell Arthur,Lal Dennis,Rangasamy Sampathkumar,Mandel Jean-Louis,Narayanan Vinodh,Huentelman Matt,Weil Dominique,Piton Amélie

Funder

Foundation Jerome Lejeune

Fondation Maladies Rares

Association Paul and Liba Mandel

CREGEMES

Agence Nationale de la Recherche

National Research Agency

Laboratory of Excellence GENMED

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics