Article
Nonclassical adrenal hyperplasia due to 21-hydroxylase-deficiency: does genotyping predict the clinical manifestation?
Endocrine research - 1 Nov 1996
l'Allemand D, Keller E, Hoeppner W, Serban A, Morel Y, Grüters A
Abstract excerpt
8 patients of 7 families with nonclassical adrenal hyperplasia (NCAH) were analysed for defects of the 21-hydroxylase-B-gene. As the defects were small or rare, complete molecular genetic diagnostic up to sequencing of this gene was necessary to detect the genotype, which then was associated with...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Child
- Exons
- Female
- Genotype
- Humans
- Infant
- Male
- Phenotype
- Point Mutation
- Prenatal Diagnosis
- Steroid 21-Hydroxylase