Position effects at the FGF8 locus are associated with femoral hypoplasia.
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DOI: 10.1016/j.ajhg.2021.08.001
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… read more here.
Keywords: associated femoral; femoral hypoplasia; position; gene dosage ... See more keywords