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Article

A novel mutation in ABCC8 gene in a newborn with congenital hyperinsulinism -a case report.

Fetal and pediatric pathology - 1 Dec 2013

Üstün Nuran Uzunalic, Dilli Dilek, Kundak Ahmet Afsin, Okumus Nurullah, Erdoğan Derya, Apaydın Sema

Abstract excerpt

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. The genetic basis of CHI includes a variety of defects in key genes regulating insulin secretion. Mutations in at least seven genes are found in 50% of cases. The most common forms of medically unresponsive CHI, which requires a near-total pancreatectomy are associated with autosomal recessive mutations in the ABCC8...

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Share to Congenital Hyperinsulinism
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23607867
DOI: 10.3109/15513815.2013.789947

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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