Article
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.
Journal of molecular medicine (Berlin, Germany) - 1 Jun 2006
Barbaro M, Baldazzi L, Balsamo A, Lajic S, Robins T, Barp L, Pirazzoli P, Cacciari E, Cicognani A, Wedell A
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is most commonly due to 21-hydroxylase deficiency and presents with a wide spectrum of clinical manifestations, from prenatal virilization and salt-wasting in the neonatal period to precocious pubarche and late-onset hyperandrogenic symptoms during adulthood....
Topics
- 17-alpha-Hydroxyprogesterone
- Adrenal Hyperplasia, Congenital
- Amino Acid Sequence
- Animals
- COS Cells
- Child
- Child, Preschool
- Chlorocebus aethiops
- Female
- Genetic Linkage
- Humans
- Infant