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Article

Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism

Journal of clinical research in pediatric endocrinology - 3 Mar 2022

Razzaghy-Azar Maryam, Saeedi Saeedeh, Dayani Sepideh Borhan, Enayati Samaneh, Abbasi Farzaneh, Hashemian Somayyeh, Eshraghi Peyman, Karimdadi Siroos, Tajdini Parisa, Vakili Rahim, Amoli Mahsa M., Yaghootkar Hanieh

Abstract excerpt

Objective: Congenital hyperinsulinism (CHI) is the most frequent cause of severe and persistent hypoglycaemia from birth. Understanding the pathophysiology and genetic defects behind hyperinsulinism and its complications provides clues to timely diagnosis and management. The aim of this study was to evaluate the underlying genetic aetiology of a specific Iranian pediatric cohort with CHI. Methods: A total of 44...

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Identifiers

PMID: 34927408
DOI: 10.4274/jcrpe.galenos.2021.2021.0071
PMCID: PMC8900073

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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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