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Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

  • Published:2013-09-11 Issue:5 Volume:22 Page:610-616
  • ISSN:1018-4813
  • Container-title:European Journal of Human Genetics
  • language:en
  • Short-container-title:Eur J Hum Genet

Author:

Menabò Soara,Polat Seher,Baldazzi Lilia,Kulle Alexandra E,Holterhus Paul-Martin,Grötzinger Joachim,Fanelli Flaminia,Balsamo Antonio,Riepe Felix G

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. New MI : Inborn errors of adrenal steroidogenesis. Mol Cell Endocrinol 2003; 211: 75–83.

2. Speiser PW, White PC : Congenital adrenal hyperplasia. N Engl J Med 2003; 349: 776–788.

3. Peter M, Dubuis JM, Sippell WG : Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies. Horm Res 1999; 51: 211–222.

4. White PC, Curnow KM, Pascoe L : Disorders of steroid 11 beta-hydroxylase isozymes. Endocr Rev 1994; 15: 421–438.

5. Joehrer K, Geley S, Strasser-Wozak EM et al: CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Hum Mol Genet 1997; 6: 1829–1834.

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