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Article

Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence.

The Journal of clinical endocrinology and metabolism - 1 Jul 2011

Pinney Sara E, Oliver-Krasinski Jennifer, Ernst Linda, Hughes Nkecha, Patel Puja, Stoffers Doris A, Russo Pierre, De León Diva D

Abstract excerpt

OBJECTIVE: The aim was to describe the clinical presentation and to characterize the genetic mutation present in a child with congenital malabsorptive diarrhea and neonatal diabetes. RESEARCH DESIGN AND METHODS: Clinical data were obtained from chart review. Histopathological characterization of intestinal samples and neurogenin-3 (NEUROG3) sequencing were performed. Expression and function of the mutated NEUROG3...

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Source

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Identifiers

PMID: 21490072
DOI: 10.1210/jc.2011-0029
PMCID: PMC3135203

Genes

NEUROG3
NEUROD1

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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