De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome-Reference-Cited by-同舟云学术

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

Published:2017-04 Issue:4 Volume:100 Page:650-658
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Jansen Sandra,Geuer Sinje,Pfundt Rolph,Brough Rachel,Ghongane Priyanka,Herkert Johanna C.,Marco Elysa J.,Willemsen Marjolein H.,Kleefstra Tjitske,Hannibal Mark,Shieh Joseph T.,Lynch Sally Ann,Flinter Frances,FitzPatrick David R.,Gardham Alice,Bernhard Birgitta,Ragge Nicola,Newbury-Ecob Ruth,Bernier Raphael,Kvarnung Malin,Magnusson E.A. Helena,Wessels Marja W.,van Slegtenhorst Marjon A.,Monaghan Kristin G.,de Vries Petra,Veltman Joris A.,Lord Christopher J.,Vissers Lisenka E.L.M.,de Vries Bert B.A.

Funder

Netherlands Organisation for Health Research and Development

European Research Council

Medical Research Council

Health Innovation Challenge Fund

Wellcome Trust, Department of Health, and Wellcome Trust Sanger Institute

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference37 articles.

1. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study;Rauch;Lancet,2012