Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.
Author
Senniappan, S.
Sadeghizadeh, A.
Flanagan, Sarah
Ellard, Sian
Hashemipour, M.
Hosseinzadeh, M.
Salehi, M.
Hussain, K.
Date
2015Journal
BMC Research NotesType
Journal ArticlePublisher
BioMed CentralDOI
10.1186/s13104-015-1319-1Rights
Archived with thanks to BMC research notesMetadata
Show full item recordAbstract
Hyperinsulinaemic hypoglycaemia (HH) is a group of clinically and genetically heterogeneous disorders characterized by unregulated insulin secretion. Abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, UCP2 and HNF1A) have been reported in HH, the most common being ABCC8 and KCNJ11. We describe the genetic aetiology and phenotype of Iranian patients with HH.