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Article

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

American journal of medical genetics - 30 Jan 1995

Gibbons R J, Brueton L, Buckle V J, Burn J, Clayton-Smith J, Davison B C, Gardner R J, Homfray T, Kearney L, Kingston H M

Abstract excerpt

The hallmarks of the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome are severe psychomotor retardation, minor facial anomalies, genital abnormalities, and an unusual form of alpha-thalassemia. The demonstration of HbH inclusions in red blood cells after incubation with brilliant cresyl blue confirms the diagnosis. We describe 15 previously unreported cases and analyse the phenotypic and...

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Source

Identifiers

PMID: 7726225
DOI: 10.1002/ajmg.1320550309

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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Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).PMID 7726225Read ↗

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Molecular-clinical spectrum of the ATR-X syndrome.Semantic proximity Read ↗

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

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.Semantic proximity Read ↗

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Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.Semantic proximity Read ↗

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