Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

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 mutat...

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Bibliographic Details
Main Authors: Zailong Qin, Jiasun Su, Mengting Li, Qi Yang, Shang Yi, Haiyang Zheng, Qiang Zhang, Fei Chen, Sheng Yi, Weiliang Lu, Wei Li, Limei Huang, Jing Xu, Yiping Shen, Jingsi Luo
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-06-01
Series:Frontiers in Genetics
Subjects:
CHD7
CHARGE syndrome
dyspnea
neonate
mutation
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00592/full

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