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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Veröffentlicht in:Int J Clin Exp Pathol
Hauptverfasser: Zhang, Manli, Cheng, Jing, Liu, Aijun, Wang, Longxia, Xiong, Lihua, Chen, Meixia, Sun, Yi, Li, Jianzhong, Lu, Yu, Yuan, Huijun, Li, Yali, Lu, Yanping
Format: Artigo
Sprache:Inglês
Veröffentlicht: e-Century Publishing Corporation 2015
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4503111/
https://ncbi.nlm.nih.gov/pubmed/26191240
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