Article
Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model.
American journal of human genetics - 1 Jun 2007
Muers Mary R, Sharpe Jacqueline A, Garrick David, Sloane-Stanley Jacqueline, Nolan Patrick M, Hacker Terry, Wood William G, Higgs Douglas R, Gibbons Richard J
Abstract excerpt
Extreme skewing of X-chromosome inactivation (XCI) is rare in the normal female population but is observed frequently in carriers of some X-linked mutations. Recently, it has been shown that various forms of X-linked mental retardation (XLMR) have a strong association with skewed XCI in female carriers, but the mechanisms underlying this skewing are unknown. ATR-X syndrome, caused by mutations in a ubiquitously...
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