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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Bibliografiska uppgifter
I publikationen:Int J Clin Exp Pathol
Huvudupphovsmän: Zhang, Manli, Cheng, Jing, Liu, Aijun, Wang, Longxia, Xiong, Lihua, Chen, Meixia, Sun, Yi, Li, Jianzhong, Lu, Yu, Yuan, Huijun, Li, Yali, Lu, Yanping
Materialtyp: Artigo
Språk:Inglês
Publicerad: e-Century Publishing Corporation 2015
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Original Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4503111/
https://ncbi.nlm.nih.gov/pubmed/26191240
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