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: | , , , , , , , , |
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格式: | Artigo |
语言: | 英语 |
出版: |
2009
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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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