NOTCH2 variant D1853H is mutated in two non-syndromic premature ovarian insufficiency patients from a Chinese pedigree

• Main Authors: Lin Li (Author), Fan Feng (Author), Minying Zhao (Author), Tengyan Li (Author), Wentao Yue (Author), Xu Ma (Author), Binbin Wang (Author), Chenghong Yin (Author)
• Format: Book
• Published: BMC, 2020-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Premature ovarian insufficiency (POI) is a severe disorder of female infertility, characterized by 4-6 months of amenorrhea before the age of 40 years, with elevated follicle stimulating hormone (FSH) levels (> 25 IU/L). Although several genes have been reported to contribute...