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

• Main Authors: Peng Huang (Author), Lu Zhang (Author), Li Tang (Author), Yi Ren (Author), Hong Peng (Author), Jie Xiong (Author), Lingjuan Liu (Author), Jie Xu (Author), Yangyang Xiao (Author), Jian Li (Author), Dingan Mao (Author), Liqun Liu (Author)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2022-05-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...