Article
Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.
The Journal of steroid biochemistry and molecular biology - 1 Jan 2017
Kandemir Nurgun, Yilmaz Didem Yucel, Gonc E Nazli, Ozon Alev, Alikasifoglu Ayfer, Dursun Ali, Ozgul R Koksal
Abstract excerpt
11β-Hydroxylase deficiency is the second most frequent type of congenital adrenal hyperplasia and is more common in those of Turkish descent than in other populations. The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish patients with 11β-hydroxylase deficiency. Twenty-eight patients from 24 families, ages ranging from 0.1 to 7 years, were included in the study. Clinical...
Topics
- Adrenal Hyperplasia, Congenital
- Binding Sites
- Child
- Child, Preschool
- Exons
- Female
- Genetic Counseling
- Genotype
- Humans
- Infant
- Infant, Newborn