Deletions in the<i>VPS13B</i>(<i>COH1</i>) gene as a cause of Cohen syndrome

Cohen syndrome is an autosomal recessive disorder that is characterized by mental retardation, facial dysmorphism, microcephaly, retinal dystrophy, truncal obesity, joint laxity and intermittent neutropenia. Mutations in the VPS13B (COH1) gene underlie Cohen syndrome. In approximately 70% of the pat...

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Main Authors: Irina Balikova, A‐E Lehesjoki, Thomy de Ravel, Bernard Thienpont, Kate Chandler, Jill Clayton‐Smith, A L Träskelin, J-P. Fryns, Joris Vermeesch
格式: Artigo
语言:英语
出版: 2009
在线阅读:https://doi.org/10.1002/humu.21065
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.21065
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