Cohen Syndrome: Review of the Literature.

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.

SUBMITTER: Rodrigues JM 

PROVIDER: S-EPMC6248805 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature