Position effects at the FGF8 locus are associated with femoral hypoplasia

Volume: 108, Issue: 9, Pages: 1725 - 1734
Published: Sep 1, 2021
Abstract
Copy-number variations (CNVs) are a common cause of congenital limb malformations and are interpreted primarily on the basis of their effect on gene dosage. However, recent studies show that CNVs also influence the 3D genome chromatin organization. The functional interpretation of whether a phenotype is the result of gene dosage or a regulatory position effect remains challenging. Here, we report on two unrelated families with individuals...
Paper Details
Title
Position effects at the FGF8 locus are associated with femoral hypoplasia
Published Date
Sep 1, 2021
Volume
108
Issue
9
Pages
1725 - 1734
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