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Article

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.

European journal of medical genetics - 1 Feb 2013

Calton Elizabeth A, Temple I Karen, Mackay Deborah J G, Lever Margaret, Ellard Sian, Flanagan Sarah E, Davies Justin H, Hussain Khalid, Gray Juliet C

Abstract excerpt

Hepatoblastoma is a tumour of early childhood occurring in association with genetic syndromes including Beckwith-Wiedemann Syndrome (BWS) which results from dominance of paternally-inherited genes on chromosome 11p15. We report a child without clinical BWS, neonatally diagnosed with focal congenital hyperinsulinism resulting from a paternally-inherited recessively-acting mutation of ABCC8 and pancreatic paternal...

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Source

Identifiers

PMID: 23261959
DOI: 10.1016/j.ejmg.2012.12.001

Genes

ABCC8

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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Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.PMID 23261959Read ↗

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