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Article

Establishment of the endocrine variant extractor and its clinical application in identifying a novel GATA3 mutation in HDR syndrome.

Frontiers in endocrinology - 1 Jan 2026

Han Yunseo, Song Danbi, Noh Minsoo, Kang Mikyung, Eom Young Sil, Lee Hunsang, Lee Sihoon

Abstract excerpt

Background: Genetic diagnosis of endocrine disorders is often hampered by the complexity of analyzing Whole Exome Sequencing (WES) data. We developed the endocrine variant extractor (EVE), a streamlined, clinician-friendly bioinformatics pipeline designed for multi-tier genetic screening with a core panel for parathyroid disorders (26 genes) and an expanded endocrine panel for broader metabolic assessment (413...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42460321
DOI: 10.3389/fendo.2026.1840651
PMCID: PMC13368677

Genes

GATA3

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

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