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Article

Genetics of congenital hyperinsulinism.

Endocrine pathology - 1 Jan 2004

Fournet Jean-Christophe, Junien Claudine

Abstract excerpt

Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous entity and causes severe hypoglycemia in neonates and infants. The clinical heterogeneity is manifested by severity ranging from extremely severe, life-threatening disease to very mild clinical symptoms, which may even be difficult to identify. Furthermore, clinical responsiveness to medical and surgical management is extremely...

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Source

Identifiers

PMID: 15640549
DOI: 10.1385/ep:15:3:233

Genes

ABCC8
KCNJ11

Provenance

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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