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

摘要

Premature ovarian insufficiency (POI) leads to early loss of ovarian function in women aged ?A) may be a cause of POI. The mutation altered mRNA splicing in cells. This study can provide geneticists with deeper insight into the pathogenesis of POI and aid clinicians in making early diagnoses in affected women.