Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.


Baş F. , Toksoy G. , Ergun-Longmire B., Uyguner Z. O. , Abalı Z., Poyrazoğlu Ş. , ...More

The Journal of steroid biochemistry and molecular biology, vol.181, pp.88-97, 2018 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 181
  • Publication Date: 2018
  • Doi Number: 10.1016/j.jsbmb.2018.04.001
  • Journal Name: The Journal of steroid biochemistry and molecular biology
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.88-97
  • Keywords: Congenital adrenal hyperplasia, 11 beta-hydroxylase deficiency, CYP11B1, Gene, Genotype-Phenotype, Novel CYP11B1 mutation, CONGENITAL ADRENAL-HYPERPLASIA, STEROID 11-BETA-HYDROXYLASE DEFICIENCY, ALDOSTERONE SYNTHASE, HEAD CIRCUMFERENCE, PUBERTAL CHANGES, CHILDREN, HYPERTENSION, GYNECOMASTIA, PATTERN, PROTEIN