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- Title
Partial duplications of the ATRX gene cause the ATR-X syndrome.
- Authors
Thienpont, Bernard; de Ravel, Thomy; Van Esch, Hilde; Van Schoubroeck, Dominique; Moerman, Philippe; Vermeesch, Joris Robert; Fryns, Jean-Pierre; Froyen, Guy; Lacoste, Caroline; Badens, Catherine; Devriendt, Koen
- 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.European Journal of Human Genetics (2007) 15, 1094–1097; doi:10.1038/sj.ejhg.5201878; published online 20 June 2007
- Subjects
HUMAN genetics; GENETICS; PATHOLOGICAL psychology; X chromosome abnormalities; HUMAN chromosome abnormalities; FRAGILE X syndrome
- Publication
European Journal of Human Genetics, 2007, Vol 15, Issue 10, p1094
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5201878