X-chromosomal inactivation patterns in women with Fabry disease.

Laura WagenhäuserVanessa RickertClaudia SommerChristoph WannerPeter NordbeckSimone RostNurcan Üçeyler

Published in: Molecular genetics & genomic medicine (2022)

X-inactivation patterns alone do not reliably reflect the clinical phenotype of women with FD when investigated in biomaterial not directly affected by FD. However, while XCI patterns may vary between tissues, blood frequently shows skewing of XCI patterns.

Keyphrases

gene expression
heart failure
copy number
hypertrophic cardiomyopathy
atomic force microscopy