Article
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.
Human mutation - 1 Sept 2009
Balikova I, Lehesjoki A-E, de Ravel T J L, Thienpont B, Chandler K E, Clayton-Smith J, Träskelin A-L, Fryns J-P, Vermeesch J R
Abstract excerpt
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 patients mutations in the gene are identified on both alleles, while in about 30% only a mutation in a single allele or...
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