Article
Clinical variability of genetic isolates of Cohen syndrome.
Clinical genetics - 1 Jun 2011
Douzgou S, Petersen M B
Abstract excerpt
Cohen syndrome (CS) (OMIM#216550) is an uncommon autosomal recessive developmental disorder that has been attributed to mutations in the COH1 gene in at least 200 patients of diverse ethnic background so far. The clinical heterogeneity of CS is evident when comparing patients of different ethnic backgrounds, especially when evaluating specific system phenotypes separately, such as the ophthalmic and central...
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