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Article

α-Thalassemia, mental retardation, and myelodysplastic syndrome.

Cold Spring Harbor perspectives in medicine - 1 Oct 2012

Gibbons Richard J

Abstract excerpt

This article describes three rare syndromes in which the presence of α-thalassemia provided an important clue to the molecular basis of the underlying condition. It exemplifies how rare diseases allied with careful clinical observation can lead to important biological principles. Two of the syndromes, ATR-16 and ATR-X, are characterized by α-thalassemia in association with multiple developmental abnormalities...

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Source

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Identifiers

PMID: 23028133
DOI: 10.1101/cshperspect.a011759
PMCID: PMC3475406

Genes

ATR
ATRX

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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