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Article

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.

Pediatric diabetes - 1 Jun 2018

Johnson S R, Leo P J, McInerney-Leo A M, Anderson L K, Marshall M, McGown I, Newell F, Brown M A, Conwell L S, Harris M, Duncan E L

Abstract excerpt

BACKGROUND: To assess the utility of whole-exome sequencing (WES) for mutation detection in maturity-onset diabetes of the young (MODY) and congenital hyperinsulinism (CHI). MODY and CHI are the two commonest monogenic disorders of glucose-regulated insulin secretion in childhood, with 13 causative genes known for MODY and 10 causative genes identified for CHI. The large number of potential genes makes...

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PMID: 29417725
DOI: 10.1111/pedi.12638

Genes

INS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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