Ghuroub Al Khayer

Classic Ataxia–Telangiectasia associated with a homozygous missense ATM variant: A case report

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 the phenotypic spectrum of ATM variants is essential to refine genotype–phenotype correlations. W...