Broader geographical spectrum of Cohen syndrome due to COH1 mutations

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Broader geographical spectrum of Cohen syndrome due to COH1 mutations.

C ohen syndrome (COH1: MIM 216550) is an autosomal recessive disorder, first described in 1973. Cardinal clinical features of Cohen syndrome include microcephaly, non-progressive mental retardation, characteristic facial features, neutropenia, and ophthalmologic findings. It is overrepresented in Finland, though cases have been reported worldwide. The genetic locus for Cohen syndrome was mapped...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 2004

ISSN: 1468-6244

DOI: 10.1136/jmg.2003.014779