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Article

Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

The Journal of clinical endocrinology and metabolism - 1 Oct 2012

Stanescu Diana E, Hughes Nkecha, Kaplan Bernard, Stanley Charles A, De León Diva D

Abstract excerpt

CONTEXT: Inactivating mutations in HNF1A and HNF4A cause the maturity-onset diabetes of youth (MODY)-3 and MODY1 forms of monogenic diabetes, respectively. Children carrying HNF4A (MODY1) mutations can present in early infancy with macrosomia and diazoxide-responsive hyperinsulinism. OBJECTIVE: Our objective was to describe three novel cases of hyperinsulinism associated with MODY1 and MODY3 mutations. RESEARCH...

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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: 22802087
DOI: 10.1210/jc.2012-1356
PMCID: PMC3674296

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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