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Article

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.

Journal of medical genetics - 1 Jan 2016

Kalish Jennifer M, Boodhansingh Kara E, Bhatti Tricia R, Ganguly Arupa, Conlin Laura K, Becker Susan A, Givler Stephanie, Mighion Lindsey, Palladino Andrew A, Adzick N Scott, De León Diva D, Stanley Charles A, Deardorff Matthew A

Abstract excerpt

BACKGROUND: Congenital hyperinsulinism (HI) can have monogenic or syndromic causes. Although HI has long been recognised to be common in children with Beckwith-Wiedemann syndrome (BWS), the underlying mechanism is not known. METHODS: We characterised the clinical features of children with both HI and BWS/11p overgrowth spectrum, evaluated the contribution of KATP channel mutations to the molecular pathogenesis of...

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Share to Beckwith-Wiedemann Syndrome
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Congenital Hyperinsulinism

Share to DNA Methylation

Share to Epigenesis, Genetic

Share to KATP Channels

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Share to Uniparental Disomy

Source

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Identifiers

PMID: 26545876
DOI: 10.1136/jmedgenet-2015-103394
PMCID: PMC4740975

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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