Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism

Congenital hyperinsulinism (CHI) is characterized by dysregulated insulin secretion, resulting in severe hypoglycemia. Mutations in the ABCC8 and KCNJ11 genes encoding KATP channels in beta cells of the pancreas are common among patients with CHI. Autosomal recessive CHI with diffuse involvement is...

Descripción completa

Detalles Bibliográficos
Autores principales: Al Balwi, Rana, Bubshait, Dalal, Al Nefily, Raed, Al Ghamdi, Omar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534644/
https://www.ncbi.nlm.nih.gov/pubmed/34682101
http://dx.doi.org/10.3390/children8100836

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534644/
https://www.ncbi.nlm.nih.gov/pubmed/34682101
http://dx.doi.org/10.3390/children8100836

Ejemplares similares