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Germline and somatic mutations in histologically atypical congenital hyperinsulinism

BackgroundIn 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.AimTo investigate genotype-hist...

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Principais autores: Annette Rønholt Larsen, Evgenia Globa, Ditte Caroline Andersen, Catarina Limbert, Åsa Löfgren Mattsson, Anne Lerberg Nielsen, Michael Bau Mortensen, Eva Kildall Hejbøl, Klaus Brusgaard, Sönke Detlefsen, Henrik Thybo Christesen
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2026-01-01
Serier:Frontiers in Endocrinology
Fag:
congenital hyperinsulinism
genetics
histology
HK1
hyperinsulinemic hypoglycemia
laser-capture microdissection
Online adgang:https://www.frontiersin.org/articles/10.3389/fendo.2025.1692539/full
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