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...

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Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: e-Century Publishing Corporation 2015
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Original Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4503111/
https://ncbi.nlm.nih.gov/pubmed/26191240
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