Article
Analysis of X chromosome inactivation in autism spectrum disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Sept 2008
Gong Xiaohong, Bacchelli Elena, Blasi Francesca, Toma Claudio, Betancur Catalina, Chaste Pauline, Delorme Richard, Durand Christelle M, Fauchereau Fabien, Botros Hany Goubran, Leboyer Marion, Mouren-Simeoni Marie-Christine, Nygren Gudrun, Anckarsäter Henrik, Rastam Maria, Gillberg I Carina, Gillberg Christopher, Moreno-De-Luca Daniel, Carone Simona, Nummela Ilona, Rossi Mari, Battaglia Agatino, Jarvela Irma, Maestrini Elena, Bourgeron Thomas
Abstract excerpt
Autism spectrum disorders (ASD) are complex genetic disorders more frequently observed in males. Skewed X chromosome inactivation (XCI) is observed in heterozygous females carrying gene mutations involved in several X-linked syndromes. In this study, we aimed to estimate the role of X-linked genes in ASD susceptibility by ascertaining the XCI pattern in a sample of 543 informative mothers of children with ASD and...
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