Article
X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype.
Brain & development - 1 Jun 2005
Gibson Joanne H, Williamson Sarah L, Arbuckle Susan, Christodoulou John
Abstract excerpt
Skewed X chromosome inactivation (XCI) has been implicated in modulating the severity of Rett syndrome (RTT), although studies by different groups have yielded conflicting results. In this study we have characterised the XCI pattern in various neuroanatomical regions of nine RTT brains and non-neural tissue in two of these patients to determine whether or not variable XCI patterns occur in different brain regions...
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