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Article

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.

Journal of medical genetics - 1 Nov 1991

Wilkie A O, Gibbons R J, Higgs D R, Pembrey M E

Abstract excerpt

We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brother. The cousin has less typical dysmorphism and a virtually normal routine blood count, but haemoglobin H inclusions...

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Source

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Identifiers

PMID: 1770529
DOI: 10.1136/jmg.28.11.738
PMCID: PMC1017107

Genes

ATR

Provenance

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.

Related research

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X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.PMID 1770529Read ↗

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

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].Semantic proximity Read ↗

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

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

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

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.Semantic proximity Read ↗

First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability.Semantic proximity Read ↗

Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.Semantic proximity Read ↗

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

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 ↗

The alpha-thalassemia/mental retardation syndromes.Semantic proximity Read ↗

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