Article

A novel ATM variant in a Colombian family with chorea-ataxia syndrome: implications for an early diagnosis

2026-07-02

Abstract excerpt

<title>Abstract</title> <p> Ataxia-telangiectasia (ATX-ATM) is a rare multisystem disorder caused by pathogenic variants in the <italic>ataxia-telangiectasia mutated</italic> ( <italic>ATM</italic> ) gene. The classic phenotype is characterized by childhood-onset progressive cerebellar ataxia and movement disorders, accompanied by telangiectasias, primary immunodeficiency, chronic pulmonary disease, endocrin...

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Literature Corpus work: e720d9d6-869a-5c29-a1ac-548b12c449df
DOI: 10.21203/rs.3.rs-9962184/v1

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