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

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 to the g...

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Detalles Bibliográficos
Autores principales: Li, Lin, Feng, Fan, Zhao, Minying, Li, Tengyan, Yue, Wentao, Ma, Xu, Wang, Binbin, Yin, Chenghong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171760/
https://www.ncbi.nlm.nih.gov/pubmed/32312275
http://dx.doi.org/10.1186/s13048-020-00645-4