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Article

Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.

European journal of endocrinology - 1 Dec 2014

Arya Ved Bhushan, Guemes Maria, Nessa Azizun, Alam Syeda, Shah Pratik, Gilbert Clare, Senniappan Senthil, Flanagan Sarah E, Ellard Sian, Hussain Khalid

Abstract excerpt

CONTEXT: Congenital hyperinsulinism (CHI) has two main histological types: diffuse and focal. Heterozygous paternally inherited ABCC8/KCNJ11 mutations (depending upon whether recessive or dominant acting and occurrence of somatic maternal allele loss) can give rise to either phenotype. However, t...

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Source

Identifiers

PMID: 25201519
DOI: 10.1530/EJE-14-0353

Genes

ABCC8
KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-25201519-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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