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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Vydáno v:Int J Clin Exp Pathol
Hlavní autoři: Zhang, Manli, Cheng, Jing, Liu, Aijun, Wang, Longxia, Xiong, Lihua, Chen, Meixia, Sun, Yi, Li, Jianzhong, Lu, Yu, Yuan, Huijun, Li, Yali, Lu, Yanping
Médium: Artigo
Jazyk:Inglês
Vydáno: e-Century Publishing Corporation 2015
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4503111/
https://ncbi.nlm.nih.gov/pubmed/26191240
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