Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis

• मुख्य लेखकों: Asma Sassi, M.D (लेखक), Julie Désir, M.D., Ph.D (लेखक), Véronique Janssens, B.Sc (लेखक), Martina Marangoni, M.Sc (लेखक), Dorien Daneels, M.Sc (लेखक), Alexander Gheldof, Ph.D (लेखक), Maryse Bonduelle, M.D., Ph.D (लेखक), Sonia Van Dooren, Ph.D (लेखक), Sabine Costagliola, Ph.D (लेखक), Anne Delbaere, M.D., Ph.D (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Elsevier, 2020-12-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Objective: To find the genetic etiology of premature ovarian insufficiency (POI) in a patient with primary amenorrhea and hypergonadotropic hypogonadism. Design: Case report. Setting: University hospital. Patient(s): A Belgian woman aged 32 years with POI at the age of 17, her parents, and her siste...