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Article

Asplenia in ATR-X syndrome: a second report.

American journal of medical genetics. Part A - 15 Nov 2005

Leahy Ronan T, Philip Roy K, Gibbons Richard J, Fisher Chris, Suri Mohnish, Reardon William

Abstract excerpt

Mutation at the ATR-X locus is associated with severe mental retardation. Several conditions, initially reported as clinically distinct phenotypes, have now been attributed to ATR-X mutation. Asplenia, in association with severe mental retardation, has been reported and subsequently demonstrated in one family to be due to ATR-X mutation. We now report on a second instance of a patient presenting with mental...

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Identifiers

PMID: 16222662
DOI: 10.1002/ajmg.a.30990

Genes

ATR

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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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Asplenia in ATR-X syndrome: a second report.PMID 16222662Read ↗

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Alpha thalassaemia-mental retardation, X linked.Semantic proximity Read ↗

Partial duplications of the ATRX gene cause the ATR-X syndrome.Semantic proximity Read ↗

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.Semantic proximity Read ↗

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.Semantic proximity Read ↗

X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.Semantic proximity Read ↗

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