View in EDS

Compound Heterozygous ATM Variants Cause Adolescent‐Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family.

Saved in:
Bibliographic Details
Title: Compound Heterozygous ATM Variants Cause Adolescent‐Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family.
Authors: Aslam, Faiza1,2,3, Ji, Weizhen2, Jeffries, Lauren2, Wadhwa, Anant4, Konstantino, Monica2, Noman, Muhammad1, Bamford, Nigel S.4,5,6, Mis, Emily2, Lakhani, Saquib A.2,3, saquib.lakhani@csmc.edu, Naz, Sadaf1, naz.sbs@pu.edu.pk, Rawal, Neetu, nrawal@wiley.com
Source: Genetics Research; 6/25/2026, Vol. 2026, p1-8, 8p
Database: Applied Science & Technology Source
Description
ISSN:00166723
DOI:10.1155/genr/5644954