CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

@article{Jhrer1997CYP11B1MC,
  title={CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.},
  author={Karin J{\"o}hrer and Stephan Geley and Elisabeth MC Strasser-Wozak and Ricardo Azziz and Hartmut A. Wollmann and Karin Schmitt and Reinhard Kofler and Perrin C White},
  journal={Human molecular genetics},
  year={1997},
  volume={6 11},
  pages={1829-34}
}
Steroid 11 beta-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia, the inherited inability to synthesize cortisol. Severely affected patients carry mutations in the CYB11B1 gene that destroy enzymatic activity. Such patients have signs of androgen excess and usually have hypertension. Mild or non-classic 11 beta-hydroxylase deficiency has been reported previously but not studied genetically. In this study we report analysis of the CYP11B1 genes of three… CONTINUE READING

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