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Journal article

Molecular-clinical spectrum of the ATR-X syndrome.

Abstract:
Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/mental retardation (ATR-X) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, X-linked mental retardation with spastic paraplegia]. An attempt is made in this article to review the clinical spectrum associated with ATRX mutations and to analyse the evidence for any genotype/phenotype correlation.
Publication status:
Published

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Authors


Gibbons, RJ More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Molecular Medicine, Biomedical Research Centre
Journal:
American journal of medical genetics
Volume:
97
Issue:
3
Pages:
204-212
Publication date:
2000
DOI:
EISSN:
1096-8628
ISSN:
0148-7299
URN:
uuid:ddf2b25b-197b-4aa4-b21b-b940a69970fb
Source identifiers:
253334
Local pid:
pubs:253334

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