| Literature DB >> 17579672 |
Bernard Thienpont1, Thomy de Ravel, Hilde Van Esch, Dominique Van Schoubroeck, Philippe Moerman, Joris Robert Vermeesch, Jean-Pierre Fryns, Guy Froyen, Caroline Lacoste, Catherine Badens, Koen Devriendt.
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.Entities:
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Year: 2007 PMID： 17579672 DOI： 10.1038/sj.ejhg.5201878
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246