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

BACKGROUND: Ataxia-telangiectasia (A-T) is a multisystem genetic disorder involving ataxia, oculocutaneous telangiectasia, and immunodeficiency caused by biallelic pathogenic variants in the ATM gene. To date, most ATM variants have been reported in the Caucasian population, and few studies have foc...

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Detalles Bibliográficos
Autores principales: Shao, Li, Wang, Haoyi, Xu, Jianbo, Qi, Ming, Yu, Zhaonan, Zhang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411728/
https://www.ncbi.nlm.nih.gov/pubmed/37564729
http://dx.doi.org/10.3389/fneur.2023.1228810

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411728/
https://www.ncbi.nlm.nih.gov/pubmed/37564729
http://dx.doi.org/10.3389/fneur.2023.1228810

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