Molecular-clinical spectrum of the ATR-X syndrome
Authors:
- Richard J. GibbonsRGRichard J. Gibbons
- Douglas R. HiggsDHDouglas R. Higgs
- 1 January 2000
- journal article
- review article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 97 (3) , 204-212
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 α 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. Am. J. Med. Genet. (Semin. Med. Genet.) 97:204–212, 2000. 2000 Wiley‐Liss, Inc. The ATRX gene has been shown to be the disease gene for numerous forms of syndromal X‐linked mental retardation.Keywords
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