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Article

A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency.

Journal of assisted reproduction and genetics - 1 Jun 2021

Verma Kunal P, Thompson Bryony, Wolfe James, Price Sarah, Djukiadmodjo Frida, Trainer Alison

Abstract excerpt

Premature or primary ovarian insufficiency (POI) affects approximately 1% of women and can be due to a variety of causes. Genetic causes include syndromic and non-syndromic POI. There are several promising candidate genes for whom a clear Mendelian association with non-syndromic POI has not yet been conclusively established, including GDF9. GDF9 is an oocyte-secreted factor and is part of the TGF-beta superfamily...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33797006
DOI: 10.1007/s10815-021-02144-x
PMCID: PMC8266936

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