Molecular–clinical spectrum of the ATR‐X syndrome
RJ Gibbons, DR Higgs - American journal of medical genetics, 2000 - Wiley Online Library
American journal of medical genetics, 2000•Wiley Online Library
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 …
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 …
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.
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