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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 which α-thalassemia arises in the context of myelodysplasia. Intriguingly, mutations in the chromatin remodeling factor, ATRX, are common to both ATR-X syndrome and ATMDS.

Original publication

DOI

10.1101/cshperspect.a011759

Type

Journal article

Journal

Cold Spring Harb Perspect Med

Publication Date

01/10/2012

Volume

2

Keywords

Chromatin Assembly and Disassembly, Humans, Intellectual Disability, Mental Retardation, X-Linked, Mutation, Myelodysplastic Syndromes, alpha-Thalassemia