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Article

Systematic mapping and in silico reevaluation of genomic copy number variations in primary ovarian insufficiency.

The Journal of clinical endocrinology and metabolism - 15 Jul 2026

Hossein Garakani Melika, Kakavand Kianoush, Hajiesmaeili Yasaman, Haratian Kaveh, Z Moradi Mahtab, Zarei Moradi Shabnam, Mohseni Meybodi Anahita

Abstract excerpt

Primary ovarian insufficiency (POI) is a highly heterogeneous condition characterized by the cessation of ovarian function before age 40. While genetic factors play a substantial role, the contribution of structural variants remains incompletely mapped. We conducted a systematic review and in silico genomic re-analysis of published copy number variations (CNVs) in individuals with POI. Following PRISMA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42126082
DOI: 10.1210/clinem/dgag202
PMCID: PMC13368365

Genes

ATF3
PRKAA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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