Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study
✍ Scribed by Burkhard J. Manfras; Michael Swinyard; William A. Rudert; Edward J. Ball; Peter A. Lee; Peter Kühnl; Massimo Trucco; Bernhard O. Böhm
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 704 KB
- Volume
- 92
- Category
- Article
- ISSN
- 0340-6717
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Defects in the enzyme, steroid 21-hydroxylase, result in congenital adrenal hyperplasia (CAH), a common autosomal recessive disorder of cortisol biosynthesis. The gene encoding this protein (CYP21B) and a closely linked pseudogene (CYP21A) have been mapped in the HLA complex on chromosome 6p, adjace
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