Characterisation of three novel CYP11B1 mutations in classic and non-classic 11 beta-hydroxylase deficiency


Polat S., Kulle A., Karaca Z., Akkurt I., Kurtoglu S., Kelestimur F., et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.170, ss.697-706, 2014 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 170 Konu: 5
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1530/eje-13-0737
  • Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Sayfa Sayısı: ss.697-706

Özet

Background: Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine diseases. Steroid 11 beta-hydroxylase (P450c11) deficiency (11OHD) is the second most common form of CAH.