Articles with "heterozygous linked" as a keyword



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X Chromosome Inactivation Pattern and Pregnancy Outcome of Female Carriers of Pathogenic Heterozygous X-Linked Deletions

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Published in 2021 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2021.782629

Abstract: Prenatal risk assessment of carriers of heterozygous X-linked deletion is a big challenge due to the phenotypic modification induced by X chromosome inactivation (XCI). Herein, we described four Chinese pedigrees with maternal-inherited X-deletions above 1… read more here.

Keywords: carriers pathogenic; female carriers; chromosome inactivation; linked deletions ... See more keywords