Article
Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients.
Steroids - 1 Jan 2000
Chan Angel O K, But W M, Ng K L, Wong L M, Lam Y Y, Tiu S C, Lee K F, Lee C Y, Loung P Y, Berry Ian R, Brown Rebecca, Charlton Ruth, Cheng C W, Ho Y C, Tse W Y, Shek C C
Abstract excerpt
BACKGROUND: Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder due to mutation in the CYP21A2 gene. OBJECTIVE: To elucidate the genetic basis of 21-hydroxylase-deficient CAH in Hong Kong Chinese patients. PATIENTS AND METHODS: Mutat...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Asian People
- Child, Preschool
- Female
- Genotype
- Hong Kong
- Humans
- Infant
- Male
- Mutation
- Steroid 21-Hydroxylase