Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Xiaolan FangKameryn M ButlerFatima AbidiJennifer GassArthur BeisangTimothy FeymaRobin C RytherShannon StandridgePeter HeydemannMary JonesRichard HaasDavid N LiebermanEric D MarshTim A BenkeSteve SkinnerJeffrey L NeulAlan K PercyMichael J FriezRaymond C CaylorPublished in: Molecular genetics & genomic medicine (2022)
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.
Keyphrases