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

• Autori principali: Lin Li (Autore), Fan Feng (Autore), Minying Zhao (Autore), Tengyan Li (Autore), Wentao Yue (Autore), Xu Ma (Autore), Binbin Wang (Autore), Chenghong Yin (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2020-04-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...