Open AccessGenotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism
Author(s) -
Kara E. Snider,
Susan Becker,
Linda Boyajian,
ShowLing Shyng,
Courtney MacMullen,
N. Hughes,
Karthik Ganapathy,
Tricia R. Bhatti,
Charles A. Stanley,
Arupa Ganguly
Publication year - 2012
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2012-2169
Subject(s) - congenital hyperinsulinism , diazoxide , proband , medicine , endocrinology , mutation , hyperinsulinism , genetics , hyperinsulinemic hypoglycemia , phenotype , missense mutation , genotype , biology , gene , hypoglycemia , insulin , insulin resistance
Hypoglycemia due to congenital hyperinsulinism (HI) is caused by mutations in 9 genes.
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