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., ...Daha Fazla

The Journal of steroid biochemistry and molecular biology, cilt.181, ss.88-97, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 181
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.jsbmb.2018.04.001
  • Dergi Adı: The Journal of steroid biochemistry and molecular biology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.88-97
  • Anahtar Kelimeler: 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
  • İstanbul Üniversitesi Adresli: Evet