Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies

Recently, Alazami and colleagues identified 33 putative candidate disease genes for neurogenetic disorders. One such gene was DPH1, in which a homozygous missense mutation was associated with a 3C syndrome-like phenotype in four patients from a single extended family. Here we report a second homozyg...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Loucks, Catrina M., Parboosingh, Jillian S., Shaheen, Ranad, Bernier, Francois P., McLeod, D. Ross, Seidahmed, Mohammed Z., Puffenberger, Erik G., Ober, Carole, Hegele, Robert A., Boycott, Kym M., Alkuraya, Fowzan S., Innes, A. Micheil
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4575268/
https://ncbi.nlm.nih.gov/pubmed/26220823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22843
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados