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Family studies of the steroid 21-hydroxylase and coplement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands

โœ Scribed by P. F. J. Koppens; T. Hoogenboezem; D. J. J. Halley; C. A. M. Barendse; A. J. Oostenbrink; H. J. Degenhart


Publisher
Springer
Year
1992
Tongue
English
Weight
806 KB
Volume
151
Category
Article
ISSN
0340-6997

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The steroid 21-hydroxylase enzyme (P450c21) is a member of the cytochrome P450 gene superfamily and is essential in the synthesis of cortisol and aldosterone. Defects in the P450c21B gene cause congenital adrenal hyperplasia (CAH), a common genetic disorder leading to virilization of newborn females