Article
Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent.
European journal of medical genetics - 1 Jun 2023
Das Sweta, Thomas Maya, Yoganathan Sangeetha, Muthusamy Karthik, Barney Anitha M, A Suneetha Susan Cleave, Dutta Atanu Kumar, A Rekha, Mohan Sony, Danda Sumita
Abstract excerpt
BACKGROUND: Ataxia-Telangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder. It is caused by mutations in the Ataxia-Telangiectasia mutated (ATM) gene, which codes for protein ATM serine/threonine kinase. OBJECTIVE: We aim to describe the clinical and radiological findings in children and adolescents of 20 molecularly confirmed cases of AT. We aim to correlate these findings with the genotype...
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