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Article

Alpha thalassaemia-mental retardation, X linked.

Orphanet journal of rare diseases - 4 May 2006

Gibbons Richard

Abstract excerpt

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate...

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Source

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Identifiers

PMID: 16722615
DOI: 10.1186/1750-1172-1-15
PMCID: PMC1464382

Genes

ATRX
ATR

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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