De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. (2014)

First Author: Mirzaa G
Attributed to:  Ciliopathy disease gene identification by whole exome medical resequencing funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1038/ng.2948

PubMed Identifier: 24705253

Publication URI: http://europepmc.org/abstract/MED/24705253

Type: Journal Article/Review

Volume: 46

Parent Publication: Nature genetics

Issue: 5

ISSN: 1061-4036