Analysis Of X-Inactivation Status In A Rett Syndrome Natural History Study Cohort
MOLECULAR GENETICS AND METABOLISM(2021)
Abstract
These results extend our understanding of the pathogenesis of RTT and other syndromes with overlapping clinical features by providing insight into the both XCI and the preferential XCI of parental alleles.
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Key words
MECP2
,CDKL5 deficiency disorder,Rett syndrome,X-chromosome inactivation,preferential inactivation of parental alleles
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