Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.
Chang G et al.
Bmc Endocrine Disorders, 2024
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
Clemente M et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center.
Rasmussen AG et al.
Pediatric Diabetes, 2020
Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning.
Ni J et al.
European Journal of Pediatrics, 2019
Genetic analysis of Italian patients with congenital hyperinsulinism of infancy.
Sogno Valin P et al.
Hormone Research in Paediatrics, 2013
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