Article
A potential functional association between mutant BMPR2 and primary ovarian insufficiency.
Systems biology in reproductive medicine - 1 Jun 2017
Patiño Liliana Catherine, Silgado Daniel, Laissue Paul
Abstract excerpt
Primary ovarian insufficiency (POI) affects ~1% of women in the general population. Despite numerous attempts at identifying POI genetic aetiology, coding mutations in only a few genes have been functionally related to POI pathogenesis. It has been suggested that mutant BMPR2 might contribute towards the phenotype. Several BMP15 (a BMPR2 ligand) coding mutations in human species have been related to POI...
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