Open access
Jan 2026
Compound Heterozygous ATM Variants Cause Adolescent‐Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family
The study expands the phenotypic heterogeneity of A–T and extends the allelic spectrum of ATM variants by recruiting a consanguineous Pakistani family with multiple individuals having adolescent‐onset ataxia.
Faiza Aslam, Weizhen Ji, L. Jeffries et al.
· Genetics Research · 0 citations