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Article

Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy.

Hormone research in paediatrics - 1 Jan 2016

Kocaay Pınar, Şiklar Zeynep, Ellard Sian, Yagmurlu Aydın, Çamtosun Emine, Erden Esra, Berberoglu Merih, Flanagan Sarah E

Abstract excerpt

BACKGROUND: Isolated hyperinsulinaemic hypoglycaemia (HH) commonly results from recessively inherited mutations in the ABCC8 and KCNJ11 genes that are located on chromosome 11p15.1. More rarely, HH can feature in patients with Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder, resulting from defects at a differentially methylated region telomeric to the K-ATP channel genes at chromosome 11p15.5....

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Share to Beckwith-Wiedemann Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27173951
DOI: 10.1159/000446153
PMCID: PMC5079068

Genes

KCNJ11
ABCC8

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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