Article
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants.
Molecular neurobiology - 1 Jul 2023
Chaves Luiza D, Carvalho Laura M L, Tolezano Giovanna C, Pires Sara F, Costa Silvia S, de Scliar Marília O, Giuliani Liane de R, Bertola Debora R, Santos-Rebouças Cíntia B, Seo Go Hun, Otto Paulo A, Rosenberg Carla, Vianna-Morgante Angela M, Krepischi Ana C V
Abstract excerpt
Intellectual disability (ID) is an early onset impairment in cognitive functioning and adaptive behavior, affecting approximately 1% of the population worldwide. Extreme skewing of X-chromosome inactivation (XCI) can be associated with ID phenotypes caused by pathogenic variants in the X chromosome. We analyzed the XCI pattern in blood samples of 194 women with idiopathic ID, using the androgen receptor gene (AR)...
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