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Article

Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation.

Pediatric diabetes - 1 Nov 2009

Thomas Inas H, Saini Natinder K, Adhikari Amita, Lee Joyce M, Kasa-Vubu Josephine Z, Vazquez Delia M, Menon Ram K, Chen Ming, Fajans Stefan S

Abstract excerpt

Permanent neonatal diabetes mellitus is a rare disorder known to be caused by activating mutations in KCNJ11 or ABCC8, inactivating mutations in INS, or very rarely in GCK or insulin promotor factor-1 (IPF-1) genes. We report a patient with permanent neonatal diabetes mellitus and severe exocrine pancreatic insufficiency. Ultrasound examination revealed pancreatic agenesis with a suggestion of a small amount of...

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Identifiers

PMID: 19496967
DOI: 10.1111/j.1399-5448.2009.00526.x
PMCID: PMC6951802

Genes

ABCC8
GCK
INS
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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