Cohen Syndrome: Review of the Literature
Jonathan M Rodrigues1, Hermina D Fernandes1, Carrie Caruthers2
1Internal Medicine, University of North Dakota School of Medicine and Health Sciences, Bismarck, USA.
Abstract:
Cohen syndrome was initially described as a syndrome including obesity, hypotonia, mental deficiency, and facial, oral, ocular and limb anomalies. Leukopenia, especially neutropenia, was later described as a feature of Cohen syndrome. Cohen syndrome is caused by an autosomal recessive (AR) mutation of the vacuolar protein sorting 13 homolog B (VPS13B, also referred to as COH1) gene on chromosome 8q22.2.
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