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A novel heterozygous ERCC6 variant identified in a Chinese family with non‐syndromic primary ovarian insufficiency

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Premature ovarian insufficiency (POI) is a clinical syndrome occurring in women before 40 with decreased ovarian function. Up to 25% of POI cases result from genetic factors that remain largely… Click to show full abstract

Premature ovarian insufficiency (POI) is a clinical syndrome occurring in women before 40 with decreased ovarian function. Up to 25% of POI cases result from genetic factors that remain largely unknown. The Excision repair cross‐complementing, group 6 (ERCC6) variant has been found to cause POI, which is hardly ever diagnosed in adolescents.

Keywords: novel heterozygous; ovarian insufficiency; ercc6 variant

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022

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