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Article

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

Journal of ovarian research - 20 Apr 2020

Li Lin, Feng Fan, Zhao Minying, Li Tengyan, Yue Wentao, Ma Xu, Wang Binbin, Yin Chenghong

Abstract excerpt

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 genetic basis of POI, the molecular mechanism of POI remains unclear. METHODS: Whole-exome sequencing (WES) was...

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Identifiers

PMID: 32312275
DOI: 10.1186/s13048-020-00645-4
PMCID: PMC7171760

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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