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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.

Original publication




Journal article


Am J Med Genet

Publication Date





204 - 212


Abnormalities, Multiple, DNA Helicases, DNA-Binding Proteins, Face, Genetic Linkage, Genotype, Humans, Intellectual Disability, Musculoskeletal Abnormalities, Nuclear Proteins, Phenotype, Syndrome, Transcription Factors, Urogenital Abnormalities, X Chromosome, X-linked Nuclear Protein