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Article

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

Journal of medical genetics - 1 Jul 2013

Alazami Anas M, Hijazi Hadia, Al-Dosari Mohammed S, Shaheen Ranad, Hashem Amal, Aldahmesh Mohammed A, Mohamed Jawahir Y, Kentab Amal, Salih Mustafa A, Awaji Ali, Masoodi Tariq A, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: Intellectual disability (ID) is one of the most common forms of disability worldwide, displaying a wide range of aetiologies and affecting nearly 2% of the global population. OBJECTIVE: To describe a novel autosomal recessive form of ID with strabismus and its underlying aetiology. MATERIALS AND METHODS: Autozygosity mapping, linkage analysis and exome sequencing were performed in a large multiplex...

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Source

Identifiers

PMID: 23620220
DOI: 10.1136/jmedgenet-2012-101378

Genes

ADAT3

Provenance

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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