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- W2110228504 abstract "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." @default.
- W2110228504 created "2016-06-24" @default.
- W2110228504 creator A5060337902 @default.
- W2110228504 date "2012-10-01" @default.
- W2110228504 modified "2023-09-27" @default.
- W2110228504 title " -Thalassemia, Mental Retardation, and Myelodysplastic Syndrome" @default.
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- W2110228504 doi "https://doi.org/10.1101/cshperspect.a011759" @default.
- W2110228504 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3475406" @default.
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