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

• Main Authors: Yingjing Wan (Author), Zhidan Hong (Author), Binyu Ma (Author), Xuanyi He (Author), Ling Ma (Author), Mei Wang (Author), Yuanzhen Zhang (Author)
• Format: Book
• Published: BMC, 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...