Germline and somatic mutations in histologically atypical congenital hyperinsulinism.

doi:10.3389/fendo.2025.1692539

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Article

Germline and somatic mutations in histologically atypical congenital hyperinsulinism.

Frontiers in endocrinology - 1 Jan 2025

Larsen Annette Rønholt, Globa Evgenia, Andersen Ditte Caroline, Limbert Catarina, Mattsson Åsa Löfgren, Nielsen Anne Lerberg, Mortensen Michael Bau, Hejbøl Eva Kildall, Brusgaard Klaus, Detlefsen Sönke, Christesen Henrik Thybo

Abstract excerpt

Background: In histologically atypical congenital hyperinsulinism (CHI), correlations between clinical, histological and genetic features are largely unknown. Laser-capture microdissection may be used to identify low-grade mosaic DNA variants in the islets of Langerhans. Aim: To investigate genotype-histotype-phenotype correlations histologically in atypical CHI. Methods: In our single-center cohort of...

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Identifiers

PMID: 41561050
DOI: 10.3389/fendo.2025.1692539
PMCID: PMC12812534

Genes

HK1
CACNA1D

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