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Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function

CONTEXT: The steroidogenic enzyme aromatase (CYP19A1) is required for estrogen biosynthesis from androgen precursors in the ovary and extragonadal tissues. The role of aromatase, and thus estrogens, is best illustrated by genetic variations of the CYP19A1 gene leading to aromatase deficiency or exce...

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Detalles Bibliográficos
Autores principales:	Praveen, Valiyaparambil Pavithran, Ladjouze, Asmahane, Sauter, Kay-Sara, Pulickal, Annie, Katharopoulos, Efstathios, Trippel, Mafalda, Perren, Aurel, Pandey, Amit V, Flück, Christa E
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	Clinical Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7159065/ https://www.ncbi.nlm.nih.gov/pubmed/32318648 http://dx.doi.org/10.1210/jendso/bvaa030

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