Article

Two Novel Heterozygote Mutations of ATM in a Chinese Family with Dystonia-Dominant Ataxia Telangiectasia and Literatures Review

2021-12-21

Abstract excerpt

<title>Abstract</title> <p>Ataxia-telangiectasia (A-T) is an autosomal recessive disorder with high clinical heterogeneity. A-T may present in complicated variable forms, mainly including classic A-T and milder forms. Contrary to the classic A-T, the milder form does not present the cardinal features of A-T, including ataxia and telangiectasia. A few <italic>ATM</italic> mutations have been reported in variant A-...

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Literature Corpus work: 962e470e-c941-5767-9cf3-d6cd8ce78a7b
DOI: 10.21203/rs.3.rs-27193/v2

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