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

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

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...

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Bibliographic Details
Main Authors: Asma Sassi, M.D., Julie Désir, M.D., Ph.D., Véronique Janssens, B.Sc., Martina Marangoni, M.Sc., Dorien Daneels, M.Sc., Alexander Gheldof, Ph.D., Maryse Bonduelle, M.D., Ph.D., Sonia Van Dooren, Ph.D., Sabine Costagliola, Ph.D., Anne Delbaere, M.D., Ph.D.
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:F&S Reports
Subjects:
Gene panel
genetics
FSH receptor
premature ovarian insufficiency
next-generation sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2666334120300556

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http://www.sciencedirect.com/science/article/pii/S2666334120300556

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