Heterozygous FMN2 missense variant found in a family case of premature ovarian insufficiency

• Hauptverfasser: Jie Li (VerfasserIn), Tianliu Peng (VerfasserIn), Le Wang (VerfasserIn), Panpan Long (VerfasserIn), Ruping Quan (VerfasserIn), Hangjing Tan (VerfasserIn), Minghua Zeng (VerfasserIn), Xue Wu (VerfasserIn), Junting Yang (VerfasserIn), Hongmei Xiao (VerfasserIn), Xiaobo Shi (VerfasserIn)
• Format: Buch
• Veröffentlicht: BMC, 2022-02-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

Abstract Background Premature ovarian insufficiency (POI) plagues 1% of women under 40, while quite a few remain an unknown cause. The development of sequencing has helped find pathogenic genes and reveal the relationship between DNA repair and ovarian reserve. Through the exome sequencing, our stud...