Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.

Flanagan, Sarah E

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. [electronic resource] - The Journal of clinical endocrinology and metabolism Mar 2011 - E498-502 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1945-7197

10.1210/jc.2010-1906 doi


3-Hydroxyacyl CoA Dehydrogenases--genetics
Cohort Studies
Consanguinity
Diazoxide
Diuretics
Female
Genome-Wide Association Study
Haplotypes
Homozygote
Humans
Hyperinsulinism--genetics
Hypoglycemia--genetics
Infant
Infant, Newborn
Male
Microsatellite Repeats
Mutation--physiology
Pedigree
Polymorphism, Single Nucleotide