Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature

Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature

Abstract Background Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disease that is mainly caused by PHOX2B mutations. The purpose of this study is to analyze and summarize the clinical and genetic characteristics of CCHS patients in the Chinese population from our st...

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书目详细资料
Main Authors: Yaoyao Wang, Lina Wang, Xiaoying Chen, Shiguo Liu, Wei Han, Xinjuan Yu, Xipeng Cao, Xiuxiang Liu, Jiahui Wang
格式: 文件
语言:English
出版: Wiley 2023-12-01
丛编:Molecular Genetics & Genomic Medicine
主题:
congenital central hypoventilation syndrome
genotype–phenotype correlation
non‐polyalanine repeat expansion mutations
polyalanine repeat expansion mutations
在线阅读:https://doi.org/10.1002/mgg3.2267

因特网

https://doi.org/10.1002/mgg3.2267

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