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Article

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

The Journal of clinical endocrinology and metabolism - 1 Feb 2013

Snider K E, Becker S, Boyajian L, Shyng S-L, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley C A, Ganguly A

Abstract excerpt

CONTEXT: Hypoglycemia due to congenital hyperinsulinism (HI) is caused by mutations in 9 genes. OBJECTIVE: Our objective was to correlate genotype with phenotype in 417 children with HI. METHODS: Mutation analysis was carried out for the ATP-sensitive potassium (KATP) channel genes (ABCC8 and KCNJ11), GLUD1, and GCK with supplemental screening of rarer genes, HADH, UCP2, HNF4A, HNF1A, and SLC16A1. RESULTS:...

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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: 23275527
DOI: 10.1210/jc.2012-2169
PMCID: PMC3565119

Genes

GCK
GLUD1
ABCC8
HADH
KCNJ11
UCP2

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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