Cohen Syndrome: Review of the Literature.
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ABSTRACT:
SUBMITTER: Rodrigues JM
PROVIDER: S-EPMC6248805 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Publications
Cohen Syndrome: Review of the Literature.
Rodrigues Jonathan M JM Fernandes Hermina D HD Caruthers Carrie C Braddock Stephen R SR Knutsen Alan P AP
Cureus 20180918 9
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. ...[more]
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