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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| 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 |