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

OBJECTIVE: The 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. METHODS: Retrospe...

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Detalles Bibliográficos
Autores principales:	Huang, Peng, Zhang, Lu, Tang, Li, Ren, Yi, Peng, Hong, Xiong, Jie, Liu, Lingjuan, Xu, Jie, Xiao, Yangyang, Li, Jian, Mao, Dingan, Liu, Liqun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9108171/ https://www.ncbi.nlm.nih.gov/pubmed/35586824 http://dx.doi.org/10.3389/fped.2022.877826

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