Article
The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia.
Journal of pediatric endocrinology & metabolism : JPEM - 18 Dec 2019
Karaoglan Murat
Abstract excerpt
Background The genotype-phenotype relationship shows regional variability in 21-hydroxylase deficiency (21-OHD) caused by mutations in the CYP21A2 gene. This study focuses on the genotype-phenotype compatibility between patients and their siblings in a region where consanguineous marriage is comm...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Alleles
- Child
- Child, Preschool
- Female
- Follow-Up Studies
- Genetic Association Studies
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation
- Phenotype
- Prevalence
- Prognosis
- Retrospective Studies