Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants

• Main Authors: Wei Luo (Author), Hanni Ke (Author), Shuyan Tang (Author), Xue Jiao (Author), Zhuqing Li (Author), Shidou Zhao (Author), Feng Zhang (Author), Ting Guo (Author), Yingying Qin (Author)
• Format: Book
• Published: BMC, 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Premature ovarian insufficiency refers to the loss of ovarian function before 40 years of age. The etiology is heterogeneous, and genetic factors account for 20-25% of cases. However, how to transform genetic findings to clinical molecular diagnose remains a challenge. To identif...