Analysis of Clinical and Genetic Characterization of Three Ataxia–Telangiectasia Pedigrees With Novel ATM Gene Mutations

ObjectiveThe clinical manifestations of ataxia–telangiectasia (AT) are very complex and are easily misdiagnosed and missed. The purpose of this study was to explore the clinical characteristics and genetic features of five pediatric patients with AT from three pedigrees in china.MethodsRetrospective...

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Główni autorzy:	Peng Huang, Lu Zhang, Li Tang, Yi Ren, Hong Peng, Jie Xiong, Lingjuan Liu, Jie Xu, Yangyang Xiao, Jian Li, Dingan Mao, Liqun Liu
Format:	Artigo
Język:	Inglês
Wydane:	Frontiers Media S.A. 2022-05-01
Seria:	Frontiers in Pediatrics
Hasła przedmiotowe:	ataxia–telangiectasia AT ATM gene Whole-exome sequencing Sanger sequencing
Dostęp online:	https://www.frontiersin.org/articles/10.3389/fped.2022.877826/full
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