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...
में बचाया:
| मुख्य लेखकों: | , , , , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | अंग्रेज़ी |
| प्रकाशित: |
2009
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| ऑनलाइन पहुंच: | https://doi.org/10.1002/humu.21065 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.21065 |
| टैग: |
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