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Alpha thalassaemia-mental retardation, X linked.

Abstract:

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with ...

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Publication status:
Published

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Publisher copy:
10.1186/1750-1172-1-15

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Molecular Medicine, Biomedical Research Centre
Journal:
Orphanet journal of rare diseases
Volume:
1
Pages:
15
Publication date:
2006
DOI:
EISSN:
1750-1172
ISSN:
1750-1172
URN:
uuid:f9c5fff2-0929-47d1-b8b0-bfbd2a2b9fb7
Source identifiers:
246229
Local pid:
pubs:246229

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