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Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention

22 Sept 2020

Abstract excerpt

BACKGROUND: The loss of ovarian function in women, referred to as premature ovarian insufficiency (POI), is associated with a series of concomitant diseases. POI is genetically heterogeneous, and in most cases, the etiology is unknown. METHODS: Whole-exome sequencing (WES) was performed on DNA samples obtained from patients with POI, and Sanger sequencing was used to validate the detected potentially pathogenic...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Ovarian function and disorders
Share to Reproductive Biology and Fertility

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32962729
DOI: 10.1186/s13048-020-00716-6

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