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Article

Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.

Endocrine journal - 1 Jan 2013

Adachi Hiroyuki, Takahashi Ikuko, Higashimoto Ken, Tsuchida Satoko, Noguchi Atsuko, Tamura Hiroaki, Arai Hirokazu, Ito Tomoo, Masue Michiya, Nishibori Hironori, Takahashi Tsutomu, Soejima Hidenobu

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is the most common congenital overgrowth syndrome involving tumor predisposition. BWS is caused by various epigenetic or genetic alterations that disrupt the imprinted genes on chromosome 11p15.5 and the clinical findings of BWS are highly variable. Hyperinsulinemic hypoglycemia is reported in about half of all babies with BWS. We identified an infant with diazoxide-unresponsive...

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Source

Identifiers

PMID: 23197114
DOI: 10.1507/endocrj.ej12-0242

Genes

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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