Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI

• Main Authors: Eleonora Ferrarini (Author), Giuseppina De Marco (Author), Francesca Orsolini (Author), Elena Gianetti (Author), Elena Benelli (Author), Franca Fruzzetti (Author), Tommaso Simoncini (Author), Patrizia Agretti (Author), Massimo Tonacchera (Author)
• Format: Book
• Published: BMC, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Premature ovarian insufficiency (POI) is an ovarian defect characterized by primary or secondary amenorrhea, hypergonadotropism and hypoestrogenism which occurs before the age of 40 years with a major genetic component. In this study we performed clinical evaluation and genetic a...