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Journal article

α-Thalassemia, mental retardation, and myelodysplastic syndrome.

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...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1101/cshperspect.a011759

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Strategic
Role:
Author
Publisher:
Cold Spring Harbor Laboratory Press Publisher's website
Journal:
Cold Spring Harbor perspectives in medicine Journal website
Volume:
2
Issue:
10
Pages:
a011759-a011759
Publication date:
2012-10-01
DOI:
EISSN:
2157-1422
ISSN:
2157-1422
Source identifiers:
354108
Language:
English
Keywords:
Pubs id:
pubs:354108
UUID:
uuid:c2304738-2537-4280-8faf-1d23fb5a9dcf
Local pid:
pubs:354108
Deposit date:
2013-11-16

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