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A Novel ATM Gene Variant (c.4940T>G; p.Leu1647Arg) in a Child with Ataxia–Telangiectasia: Clinical, Radiologic, and Genetic Correlation

2025-12-16

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<title>Abstract</title> <p>Ataxia–telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, characterized by progressive cerebellar ataxia, telangiectasias, immunodeficiency, and increased cancer risk. Reporting novel ATM variants is essential to refine genotype–phenotype correlations. We report a 6-year-old boy presenting with progressive gait ataxia, recurrent respiratory...

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Literature Corpus work
ffec2bb3-5185-505c-a333-7c13668efb65
DOI
10.21203/rs.3.rs-8368178/v1
Open publication

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A Novel ATM Gene Variant (c.4940T&gt;G; p.Leu1647Arg) in a Child with Ataxia–Telangiectasia: Clinical, Radiologic, and Genetic CorrelationDOI 10.21203/rs.3.rs-8368178/v1
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