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First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS1...
Gorde:
| Argitaratua izan da: | BMC Med Genet |
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| Egile Nagusiak: | , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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BioMed Central
2017
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5693559/ https://ncbi.nlm.nih.gov/pubmed/29149870 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0493-5 |
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