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Article

Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve

24 Aug 2023

Abstract excerpt

BACKGROUND: Diminished ovarian reserve (DOR) is a common cause of female infertility, with genetic factors being a significant contributor. However, due to high genetic heterogeneity, the etiology of DOR in many cases remains unknown. In this study, we analyzed the phenotype of a young woman with primary infertility and performed molecular genetic analysis to identify the genetic cause of her condition, thus...

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PMID: 37620942
DOI: 10.1186/s12958-023-01127-0

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