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Growth differentiation factor 9 (GDF9) is a central regulator of folliculogenesis and ovulation rate. Fourteen mutations in human (h) GDF9 have been reported in women with premature ovarian failure or polycystic ovarian syndrome as well as in mothers of dizygotic twins, implicating GDF9 in the etiology of these conditions. We sought to determine how these mutations alter the biological activity of hGDF9.

Aberrant GDF9 Expression and Activation Are Associated With Common Human Ovarian Disorders