A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency

• Main Authors: Jing Zhe (Author), Shiling Chen (Author), Xin Chen (Author), Yudong Liu (Author), Ying Li (Author), Xingyu Zhou (Author), Jun Zhang (Author)
• Format: Book
• Published: BMC, 2019-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Premature ovarian insufficiency (POI) leads to early loss of ovarian function in women aged < 40 years and is highly heterogeneous in etiology. The genetic etiology of this disorder remains unknown in most women with POI. Methods Whole-exome sequencing (WES) was used to analyz...