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?-Thalassemia, mental retardation, and myelodysplastic syndrome.

ABSTRACT: This article describes three rare syndromes in which the presence of ?-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 ?-thalassemia in association with multiple developmental abnormalities including mental retardation. The third condition, ATMDS, is an acquired disorder in which ?-thalassemia arises in the context of myelodysplasia. Intriguingly, mutations in the chromatin remodeling factor, ATRX, are common to both ATR-X syndrome and ATMDS.

SUBMITTER: Gibbons RJ

PROVIDER: S-EPMC3475406 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature

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α-Thalassemia, mental retardation, and myelodysplastic syndrome.

Gibbons Richard J RJ

Cold Spring Harbor perspectives in medicine 20121001 10

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 including mental retardation. The third condition, ATMDS, is an acquired disorder in wh ...[more]

PMID: 23028133

Dataset Information

?-Thalassemia, mental retardation, and myelodysplastic syndrome.

Publications

α-Thalassemia, mental retardation, and myelodysplastic syndrome.

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