Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
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DOI: 10.1002/mgg3.1917
Abstract: BACKGROUND Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the MECP2 gene is subject to X-chromosome inactivation (XCI), factors including MECP2 genotypic variation, tissue differences in XCI, and skewing… read more here.
Keywords: rett syndrome; inactivation; xci; status ... See more keywords