A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China

Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive condition characterized by renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Genetic heterogeneity...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Int J Clin Exp Pathol
Main Authors: Zhang, Manli, Cheng, Jing, Liu, Aijun, Wang, Longxia, Xiong, Lihua, Chen, Meixia, Sun, Yi, Li, Jianzhong, Lu, Yu, Yuan, Huijun, Li, Yali, Lu, Yanping
Formato: Artigo
Idioma:Inglês
Publicado em: e-Century Publishing Corporation 2015
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4503111/
https://ncbi.nlm.nih.gov/pubmed/26191240
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados