Open AccessIdentification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
Author(s) -
Xiaoyi Hu,
Tao Huang,
Yun Liu,
Lina Zhang,
Liangru Zhu,
Xiaohong Peng,
Sufang Zhang
Publication year - 2021
Publication title -
pharmacogenomics and personalized medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.845
H-Index - 28
ISSN - 1178-7066
DOI - 10.2147/pgpm.s327252
Subject(s) - medicine , genetics , exon , exome sequencing , microcephaly , genetic counseling , hypotonia , genetic testing , hypertelorism , mutation , compound heterozygosity , gene , pediatrics , biology , anatomy
The present study aims to investigate the clinical features and diagnostic characteristics of children with Cohen syndrome caused by the vacuolar protein sorting 13 homolog B (VPS13B) gene mutation and to review the relevant literature to provide a reference for genetic counseling and the diagnosis of Cohen syndrome.