Article
Analysis of common genetic mutations in a cohort of children with salt wasting form of Congenital Adrenal Hyperplasia.
The Ceylon medical journal - 31 Dec 2020
Somasundaram Praveenan, Hewage Sudeshini, De Silva Harshini
Abstract excerpt
INTRODUCTION: Steroid hydroxylase deficiency due to CYP21A2 gene mutation is the most common cause of Congenital Adrenal Hyperplasia (CAH). Mutation spectrum in Sri Lankan CAH patients has not been investigated adequately. OBJECTIVES: This study attempted to study the spectrum of mutations in CYP...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Child
- Genotype
- Humans
- Mutation
- Phenotype
- Sri Lanka
- Steroid 21-Hydroxylase