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Mutations in the CYP21B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia

✍ Scribed by Fardella, Carlos E.; Poggi, H.; Soto, J.; Torrealba, I.; Cattani, A.; Ugarte, F.; Cortinez, A.; Foradori, A.


Book ID
125334685
Publisher
Springer-Verlag
Year
2000
Tongue
English
Weight
80 KB
Volume
23
Category
Article
ISSN
0391-4097

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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