Open AccessA Chinese Boy with Mowat–Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene
Author(s) -
Ling Wei,
Xiao Han,
Xue Li,
Bing Han,
Wen-ying Nie
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.s320128
Subject(s) - medicine , haploinsufficiency , hypertelorism , microcephaly , short stature , exome sequencing , mutation , global developmental delay , intellectual disability , frontal bossing , exon , corpus callosum , gene mutation , macrocephaly , sensorineural hearing loss , sanger sequencing , noonan syndrome , hearing loss , genetics , anatomy , pediatrics , gene , phenotype , audiology , biology , psychiatry
Mowat-Wilson syndrome (MWS) is a rare complex malformation syndrome which is characterized by typical facial dysmorphism, moderate to severe intellectual disability, global developmental delay, and multiple congenital anomalies. Here, we summarize the clinical characteristics and gene mutation analysis of a Chinese boy with MWS.