Article
Position effects at the FGF8 locus are associated with femoral hypoplasia.
American journal of human genetics - 2 Sept 2021
Socha Magdalena, Sowińska-Seidler Anna, Melo Uirá Souto, Kragesteen Bjørt K, Franke Martin, Heinrich Verena, Schöpflin Robert, Nagel Inga, Gruchy Nicolas, Mundlos Stefan, Sreenivasan Varun K A, López Cristina, Vingron Martin, Bukowska-Olech Ewelina, Spielmann Malte, Jamsheer Aleksander
Abstract excerpt
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...
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