Molecular-clinical spectrum of the ATR-X syndrome
- 1 January 2000
- journal article
- review article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 97 (3), 204-212
- https://doi.org/10.1002/1096-8628(200023)97:3<204::aid-ajmg1038>3.0.co;2-x
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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