Analysis Of X-Inactivation Status In A Rett Syndrome Natural History Study Cohort

Xiaolan Fang,Kameryn Butler,Fatima Abidi,Jennifer M. Gass,Arthur Beisang,Timothy Feyma,Robin Ryther,Shannon Standridge,Peter Heydemann,Mary Jones,Richard Haas,David Lieberman,Eric Marsh,Timothy Benke,Steven Skinner,Jeffrey Neul,Alan Percy,Michael Friez,Raymond Caylor

MOLECULAR GENETICS AND METABOLISM（2021）

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摘要

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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关键词

MECP2 ,CDKL5 deficiency disorder,Rett syndrome,X-chromosome inactivation,preferential inactivation of parental alleles

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