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Article

Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.

Human reproduction (Oxford, England) - 5 Jan 2024

Vogt Elinor Chelsom, Bratland Eirik, Berland Siren, Berentsen Ragnhild, Lund Agnethe, Björnsdottir Sigridur, Husebye Eystein, Øksnes Marianne

Abstract excerpt

STUDY QUESTION: Is it possible to find the cause of primary ovarian insufficiency (POI) in more women by extensive screening? SUMMARY ANSWER: Adding next generation sequencing techniques including a POI-associated gene panel, extended whole exome sequencing data, as well as specific autoantibody assays to the recommended diagnostic investigations increased the determination of a potential etiological diagnosis of...

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Identifiers

PMID: 37953503
DOI: 10.1093/humrep/dead233
PMCID: PMC10767963

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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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