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Article

Different clinical and immunological presentation of ataxia-telangiectasia within the same family.

Neuropediatrics - 1 Feb 2008

Soresina A, Meini A, Lougaris V, Cattaneo G, Pellegrino S, Piane M, Darra F, Plebani A

Abstract excerpt

Ataxia-telangiectasia is a rare multisystem neurodegenerative genetic disorder due to mutation of ATM gene. The clinical expression and the immunological abnormalities are variable and apparently not associated with the type of ATM mutations. We report on two siblings affected by A-T with differe...

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Source

Identifiers

PMID: 18504682
DOI: 10.1055/s-2008-1076736

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18504682-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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