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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Detalles Bibliográficos
Autores principales: Sassi, Asma, Désir, Julie, Janssens, Véronique, Marangoni, Martina, Daneels, Dorien, Gheldof, Alexander, Bonduelle, Maryse, Van Dooren, Sonia, Costagliola, Sabine, Delbaere, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8244262/
https://www.ncbi.nlm.nih.gov/pubmed/34223243
http://dx.doi.org/10.1016/j.xfre.2020.08.008

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