Ataxia-telangiectasia in China: a case report of a novel ATM variant and literature review

Shao, L; Wang, HY; Xu, JB; Qi, M; Yu, ZA; Zhang, J

Zhang, J (通讯作者)，Jinhua Matern & Child Hlth Care Hosp, Dept Child Healthcare, Jinhua, Zhejiang, Peoples R China.;Yu, ZA (通讯作者)，Hangzhou DA Med Lab, Hangzhou, Zhejiang, Peoples R China.;Yu, ZA (通讯作者)，Tianjin Univ, Med Coll, Tianjin, Peoples R China.

FRONTIERS IN NEUROLOGY, 2023; 14 ():

Abstract

BackgroundAtaxia-telangiectasia (A-T) is a multisystem genetic disorder involving ataxia, oculocutaneous telangiectasia, and immunodeficiency caused b......

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