Article
Cohen syndrome diagnosis using whole genome arrays.
Journal of medical genetics - 1 Feb 2011
Rivera-Brugués Nuria, Albrecht Beate, Wieczorek Dagmar, Schmidt Heinrich, Keller Thomas, Göhring Ina, Ekici Arif B, Tzschach Andreas, Garshasbi Masoud, Franke Kathlen, Klopp Norman, Wichmann H-Erich, Meitinger Thomas, Strom Tim M, Hempel Maja
Abstract excerpt
BACKGROUND: Cohen syndrome is a rare autosomal recessive disorder with a complex phenotype including psychomotor retardation, microcephaly, obesity with slender extremities, joint laxity, progressive chorioretinal dystrophy/myopia, intermittent isolated neutropenia, a cheerful disposition, and characteristic facial features. The COH1 gene, which contains 62 exons, is so far the only gene known to be associated...
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