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Article

Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism.

Genetics research - 1 Jan 2025

Begemann Matthias, Boy Johannes Alexander Tobias, Kraft Florian, Vossschulte Hendrik, Barthlen Winfried, Kummer Sebastian, Orlikowsky Thorsten, Torosoglu Adrin, Eggermann Thomas, Kurth Ingo, Elbracht Miriam, Pappa Angeliki

Abstract excerpt

This case study examines a preterm newborn with autosomal recessive ABCC8 gene-related diffuse congenital hyperinsulinism (CHI). The interdisciplinary management of the patient, including advanced genetic testing and long-read sequencing, finally led to the molecular diagnosis. These findings were relevant for the immediate decision on further treatment options highlighting the importance of differentiating...

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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: 41438615
DOI: 10.1155/genr/7281653
PMCID: PMC12721746

Genes

ABCC8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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