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Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel

Background and objectivesPrimary ovarian insufficiency (POI) affects 1-4% of women and is associated with infertility and reduced life expectancy. Most cases are idiopathic, and a genetic alteration is often the most plausible cause. In this study, we investigated whether targeted next-generation se...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: Claudia Veneziano, Jessica Parrotta, Daniela Lico, Gianluca Santamaria, Gemma Antonucci, Maria Teresa De Angelis, Fulvio Zullo, Giuseppe Viglietto, Carmela De Marco, Roberta Venturella
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Frontiers Media S.A. 2025-12-01
Rangatū:Frontiers in Endocrinology
Ngā marau:
non-syndromic primary ovarian Insufficiency (nsPOI)
next generation sequencing (NGS)
NGS panel
female infertility
genetic screening
Urunga tuihono:https://www.frontiersin.org/articles/10.3389/fendo.2025.1659701/full
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