Ontology highlight
ABSTRACT:
SUBMITTER: Qin Z
PROVIDER: S-EPMC7314916 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Qin Zailong Z Su Jiasun J Li Mengting M Yang Qi Q Yi Shang S Zheng Haiyang H Zhang Qiang Q Chen Fei F Yi Sheng S Lu Weiliang W Li Wei W Huang Limei L Xu Jing J Shen Yiping Y Luo Jingsi J
Frontiers in genetics 20200618
CHARGE syndrome is a life-threatening disease caused by mutations of chromodomain helicase DNA-binding protein 7 gene (CHD7). The disease is characterized by a pattern of congenital anomalies that involve multiple organs. In this study, five patients were diagnosed as CHARGE syndrome with CHD7 mutations by whole exome sequencing. Although the clinical phenotypes of probands are highly variable and typical symptoms such as coloboma and choanal atresia are not commonly manifested in this cohort, t ...[more]