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Article

Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia.

Saudi medical journal - 1 Oct 2013

Al-Agha Abdulmoein E, Ahmad Ihab A

Abstract excerpt

OBJECTIVE: To understand the genetic etiologies of congenital hyperinsulinism (CHI) in a population of Saudi patients, and to explore genotype-phenotype characteristics. METHODS: We retrospectively reviewed a cohort of 11 children with CHI presenting to King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia between March 2007 and February 2012. Mutational analysis (ABCC8 and KCNJ11) was performed...

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Identifiers

PMID: 24145932

Genes

ABCC8
KCNJ11

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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