Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia (CAH). CAH due to 21-hydroxylase deficiency is divided into three classes: salt-wasting (classical), non-classical and simple virilizing, reflecting different degrees of clinical severity. Using polymerase chain r
Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype–phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia
✍ Scribed by Roxana Marino; Pablo Ramirez; Jesica Galeano; Natalia Perez Garrido; Carlos Rocco; Marta Ciaccio; Diana M. Warman; Gabriela Guercio; Eduardo Chaler; Mercedes Maceiras; Ignacio Bergadá; Mirta Gryngarten; Viviana Balbi; Esther Pardes; Marco A. Rivarola; Alicia Belgorosky
- Book ID
- 108704985
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 89 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0300-0664
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Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating p
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