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Article

A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.

Journal of the neurological sciences - 15 Aug 2017

Tabatabaiefar Mohammad Amin, Alipour Paria, Pourahmadiyan Azam, Fattahi Najmeh, Shariati Laleh, Golchin Neda, Mohammadi-Asl Javad

Abstract excerpt

Ataxia telangiectasia (A-T) is a neurodegenerative autosomal recessive disorder with the main characteristics of progressive cerebellar degeneration, sensitivity to ionizing radiation, immunodeficiency, telangiectasia, premature aging, recurrent sinopulmonary infections, and increased risk of malignancy, especially of lymphoid origin. Ataxia Telangiectasia Mutated gene, ATM, as a causative gene for the A-T...

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Identifiers

PMID: 28716242
DOI: 10.1016/j.jns.2017.06.012

Genes

ATM

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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