Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation

CONTEXT: The etiology of primary ovarian insufficiency (POI) remains unknown in most cases. OBJECTIVE: We sought to identify the genes causing POI. DESIGN: The study was a familial genetic study. SETTING: The study was performed at two academic institutions. PATIENTS: We identified a consanguineous...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Al-Agha, Abdulmoein Eid, Ahmed, Ihab Abdulhamed, Nuebel, Esther, Moriwaki, Mika, Moore, Barry, Peacock, Katherine A., Mosbruger, Tim, Neklason, Deborah W., Jorde, Lynn B., Yandell, Mark, Welt, Corrine K.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2017
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5800840/
https://ncbi.nlm.nih.gov/pubmed/29240891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2017-01966
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