Article
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.
BMC research notes - 13 Aug 2015
Senniappan Senthil, Sadeghizadeh Atefeh, Flanagan Sarah E, Ellard Sian, Hashemipour Mahin, Hosseinzadeh Majid, Salehi Mansour, Hussain Khalid
Abstract excerpt
BACKGROUND: 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....
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