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SAT-010 Non-Classic POR Deficiency as a Cause of Menstrual Disorders & Infertility

P450 oxidoreductase deficiency (PORD) is an autosomal recessive disease caused by bi-allelic mutations of the POR gene. It is responsible for decreased activity of several P450 enzymes including CYP21A2, CYP17A1 and CYP19A1 that are involved in adrenal and/or gonadal steroidogenesis. PORD is typical...

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Detalles Bibliográficos
Autores principales:	Papadakis, Georgios E, Dumont, Agathe, Bouligand, Jerome, Chasseloup, Fanny, Raggi, Anna, Catteau-Jonard, Sophie, Boute-Benejean, Odile, Pitteloud, Nelly, Young, Jacques, Dewailly, Didier R
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	Reproductive Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209003/ http://dx.doi.org/10.1210/jendso/bvaa046.898

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