title: A novel CYP11B1 mutation in a Turkish patient with 11β-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis.
authors.affiliation: Endocrinology Department, Ege University Faculty of Medicine, Bornova, Izmir, Turkey. bsareryurekli@yahoo.com.
authors.forename: Banu Sarer
authors.initials: BS
authors.lastname: Yurekli
authors.affiliation: Endocrinology Department, Ege University Faculty of Medicine, Bornova, Izmir, Turkey.
authors.forename: Nilufer Ozdemir
authors.initials: NO
authors.lastname: Kutbay
authors.affiliation: Endocrinology Department, Ege University Faculty of Medicine, Bornova, Izmir, Turkey.
authors.forename: Huseyin
authors.initials: H
authors.lastname: Onay
authors.affiliation: Endocrinology Department, Ege University Faculty of Medicine, Bornova, Izmir, Turkey.
authors.forename: Ilgin Yildirim
authors.initials: IY
authors.lastname: Simsir
authors.affiliation: Endocrinology Department, Ege University Faculty of Medicine, Bornova, Izmir, Turkey.
authors.forename: Gokcen Unal
authors.initials: GU
authors.lastname: Kocabas
authors.affiliation: Endocrinology Department, Ege University Faculty of Medicine, Bornova, Izmir, Turkey.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Erdogan
authors.affiliation: Endocrinology Department, Ege University Faculty of Medicine, Bornova, Izmir, Turkey.
authors.forename: Sevki
authors.initials: S
authors.lastname: Cetinkalp
authors.affiliation: Endocrinology Department, Ege University Faculty of Medicine, Bornova, Izmir, Turkey.
authors.forename: Gokhan
authors.initials: G
authors.lastname: Ozgen
authors.affiliation: Endocrinology Department, Ege University Faculty of Medicine, Bornova, Izmir, Turkey.
authors.forename: Fusun
authors.initials: F
authors.lastname: Saygili
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007008:Hypokalemia / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D009154:Mutation; D010641:Phenotype; D012206:Rhabdomyolysis / Q000175:diagnosis / Q000209:etiology*; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics*; D014421:Turkey; D055815:Young Adult
chemical_list: D013252:Steroid 11-beta-Hydroxylase