Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.

doi:10.1016/j.fertnstert.2021.04.021

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Article

Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.

Fertility and sterility - 1 Sept 2021

Trevino Cristina E, Rounds J Christopher, Charen Krista, Shubeck Lisa, Hipp Heather S, Spencer Jessica B, Johnston H Richard, Cutler Dave J, Zwick Michael E, Epstein Michael P, Murray Anna, Macpherson James N, Mila Montserrat, Rodriguez-Revenga Laia, Berry-Kravis Elizabeth, Hall Deborah A, Leehey Maureen A, Liu Ying, Welt Corrine, Warren Stephen T, Sherman Stephanie L, Jin Peng, Allen Emily G

Abstract excerpt

OBJECTIVE: To identify modifying genes that explains the risk of fragile X-associated primary ovarian insufficiency (FXPOI). DESIGN: Gene-based, case/control association study, followed by a functional screen of highly ranked genes using a Drosophila model. SETTING: Participants were recruited from academic and clinical settings. PATIENT(S): Women with a premutation (PM) who experienced FXPOI at the age of 35...

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PMID: 34016428
DOI: 10.1016/j.fertnstert.2021.04.021
PMCID: PMC8494118

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