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Article

Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.

Clinical genetics - 1 Sept 2024

Tucker Elena J, Sharp Michael F, Lokchine Anna, Bell Katrina M, Palmer Catherine S, Kline Brianna L, Robevska Gorjana, van den Bergen Jocelyn, Dulon Jérôme, Stojanovski Diana, Ayers Katie L, Touraine Philippe, Crismani Wayne, Jaillard Sylvie, Sinclair Andrew H

Abstract excerpt

Premature ovarian insufficiency is a common form of female infertility affecting up to 4% of women and characterised by amenorrhea with elevated gonadotropin before the age of 40. Oocytes require controlled DNA breakage and repair for homologous recombination and the maintenance of oocyte integrity. Biallelic disruption of the DNA damage repair gene, Fanconi anemia complementation group A (FANCA), is a common...

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Identifiers

PMID: 38779778
DOI: 10.1111/cge.14543

Genes

FANCA

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