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Article

Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.

Diabetes care - 1 Sept 2008

Staník Juraj, Lethby Mark, Flanagan Sarah E, Gasperíková Daniela, Milosovicová Beata, Lever Margaret, Bullman Hilary, Zubcevic Lejla, Hattersley Andrew T, Ellard Sian, Ashcroft Frances M, Klimes Iwar

Abstract excerpt

OBJECTIVE: Neonatal diabetes is a heterogeneous group of disorders with diabetes manifestation in the first 6 months of life. The most common etiology in permanent neonatal diabetes is mutations of the ATP-sensitive K(+) channel subunits; in transient neonatal diabetes, chromosome 6q24 abnormalit...

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Source

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Identifiers

PMID: 18556340
DOI: 10.2337/dc08-0549
PMCID: PMC2518334

Genes

KCNJ11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18556340-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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