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  • Title: Partial duplications of the ATRX gene cause the ATR-X syndrome.
    Author: Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K.
    Journal: Eur J Hum Genet; 2007 Oct; 15(10):1094-7. PubMed ID: 17579672.
    Abstract:
    ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.
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