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