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Article

Identification of two mutations for ataxia telangiectasia among the Druze community.

Prenatal diagnosis - 1 May 2004

Fares Fuad, Axelord Ran Sivan, David Miriam, Zelnik Nathanel, Hecht Yehudah, Khairaldeen Hasan, Lerner Aaron

Abstract excerpt

Ataxia telangiectasia (AT) is a rare autosomal recessive disease characterized by progressive cerebellar ataxia, immunodeficiency, susceptibility to lymphoreticular malignancies and cancer predisposition, hypersensitivity to ionic radiation and chromosomal instability. In this study, we report a founder effect of AT with two different mutations: 1339 C > T and 6672 del GG together with 6677 del TACG, found in...

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Identifiers

PMID: 15164409
DOI: 10.1002/pd.874

Genes

ATM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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