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CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

โœ Scribed by Stikkelbroeck, Nike M. M. L.; Hoefsloot, Lies H.; de Wijs, Ilse J.; Otten, Barto J.; Hermus, Ad R. M. M.; Sistermans, Erik A.


Book ID
125843604
Publisher
Endocrine Society
Year
2003
Tongue
English
Weight
113 KB
Volume
88
Category
Article
ISSN
0021-972X

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## Abstract Steroid 21โ€hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia (CAH), an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17โ€hydroxyp