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Article

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.

Pediatric diabetes - 1 Feb 2019

Johnson Stephanie R, Ellis Jonathan J, Leo Paul J, Anderson Lisa K, Ganti Uma, Harris Jessica E, Curran Jacqueline A, McInerney-Leo Aideen M, Paramalingam Nirubasini, Song Xiaoxia, Conwell Louise S, Harris Mark, Jones Timothy W, Brown Matthew A, Davis Elizabeth A, Duncan Emma L

Abstract excerpt

BACKGROUND: Maturity-onset diabetes of the young (MODY) is caused by autosomal dominant mutations in one of 13 confirmed genes. Estimates of MODY prevalence vary widely, as genetic screening is usually restricted based on clinical features, even in population studies. We aimed to determine prevalence of MODY variants in a large and unselected pediatric diabetes cohort. METHODS: MODY variants were assessed using...

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PMID: 30191644
DOI: 10.1111/pedi.12766

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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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