Article
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
American journal of human genetics - 1 Jul 2004
Kolehmainen Juha, Wilkinson Robert, Lehesjoki Anna-Elina, Chandler Kate, Kivitie-Kallio Satu, Clayton-Smith Jill, Träskelin Ann-Liz, Waris Laura, Saarinen Anne, Khan Jabbar, Gross-Tsur Varda, Traboulsi Elias I, Warburg Mette, Fryns Jean-Pierre, Norio Reijo, Black Graeme C M, Manson Forbes D C
Abstract excerpt
Cohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The pleiotropic phenotype, combined with insufficient clinical data, often leads to an erroneous diagnosis and has led to confusion in the literature. Here, we report the results of a comprehensive genotype-phenotype study on the largest cohort of patients with Cohen...
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