Cortisone Reductase Deficiency
What's New
Last Posted: Jan 20, 2012
- Association study of CYP17 and HSD11B1 in polycystic ovary syndrome utilizing comprehensive gene coverage.
Chua Angela K, et al. Molecular human reproduction 2012 6 (6) 320-4 - Cortisone reductase deficiency
From NCATS Genetic and Rare Diseases Information Center - Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.
Qin Kenan, et al. Steroids 2011 1 (1-2) 135-9 - Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis.
Alcina Antonio, et al. European journal of human genetics : EJHG 2010 5 (5) 618-20 - Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome.
Gambineri Alessandra, et al. The Journal of clinical endocrinology and metabolism 2006 6 (6) 2295-302 - Lack of Association of the 11beta-hydroxysteroid dehydrogenase type 1 gene 83,557insA and hexose-6-phosphate dehydrogenase gene R453Q polymorphisms with body composition, adrenal androgen production, blood pressure, glucose metabolism, and dementia.
Smit Pauline, et al. The Journal of clinical endocrinology and metabolism 2007 1 (1) 359-62 - A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome.
San Millán José L, et al. The Journal of clinical endocrinology and metabolism 2005 7 (7) 4157-62 - Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample.
White Perrin C, et al. The Journal of clinical endocrinology and metabolism 2005 10 (10) 5880-3
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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