科恩综合征：文献综述
Cohen Syndrome: Review of the Literature.
作者信息
Rodrigues Jonathan M, Fernandes Hermina D, Caruthers Carrie, Braddock Stephen R, Knutsen Alan P
机构信息
Internal Medicine, University of North Dakota School of Medicine and Health Sciences, Bismarck, USA.
Allergy and Immunology, The Vancouver Clinic, Vancouver, USA.
出版信息
Cureus. 2018 Sep 18;10(9):e3330. doi: 10.7759/cureus.3330.
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.
摘要
科恩综合征最初被描述为一种包括肥胖、肌张力减退、智力缺陷以及面部、口腔、眼部和肢体异常的综合征。白细胞减少症，尤其是中性粒细胞减少症，后来被描述为科恩综合征的一个特征。科恩综合征由位于8号染色体q22.2区域的液泡蛋白分选13同源物B（VPS13B，也称为COH1）基因的常染色体隐性（AR）突变引起。
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