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

10 Mar 2020

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Abstract 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 excess. Objective The objective of this work is to characterize novel CYP19A1 variants. Design, setting, and...

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Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Growth Hormone and Insulin-like Growth Factors
Hypothalamic control of reproductive hormones

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32318648
DOI: 10.1210/jendso/bvaa030

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