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Article

Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.

Frontiers in immunology - 1 Jan 2019

Mandola Amarilla B, Reid Brenda, Sirror Raga, Brager Rae, Dent Peter, Chakroborty Pranesh, Bulman Dennis E, Roifman Chaim M

Abstract excerpt

Ataxia telangiectasia (AT) is a genetic condition caused by mutations involving ATM (Ataxia Telangiectasia Mutated). This gene is responsible for the expression of a DNA double stranded break repair kinase, the ATM protein kinase. The syndrome encompasses combined immunodeficiency and various degrees of neurological abnormalities and increased risk of malignancy. Typically, patients present early in life with...

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Identifiers

PMID: 31921190
DOI: 10.3389/fimmu.2019.02940
PMCID: PMC6932992

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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