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Article

Ophthalmic features of ataxia telangiectasia-like disorder.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Apr 2008

Khan Arif O, Oystreck Darren T, Koenig Michel, Salih Mustafa A

Abstract excerpt

INTRODUCTION: Ataxia telangiectasia (AT) is a recessive neurodegenerative disease due to a faulty repair mechanism for breaks in double-stranded DNA (ATM mutation). Ophthalmic features of AT include conjunctival telangiectasia, strabismus, saccadic dysfunction with head thrusts, and convergence i...

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Source

Identifiers

PMID: 18083591
DOI: 10.1016/j.jaapos.2007.09.016

Genes

MRE11
ATM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18083591-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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