Article
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.
Molecular diagnosis & therapy - 1 May 2021
Concolino Paola, Paragliola Rosa Maria
Abstract excerpt
BACKGROUND AND OBJECTIVE: Congenital adrenal hyperplasia involves a series of autosomal recessive disorders where adrenal steroidogenesis is affected. We present a detailed molecular investigation of 13 newborns affected from the severe form of congenital adrenal hyperplasia related to 21-hydroxy...
Topics
- Adrenal Hyperplasia, Congenital
- Female
- Frameshift Mutation
- Genetic Predisposition to Disease
- Genotyping Techniques
- Humans
- Infant
- Infant, Newborn
- Male
- Steroid 21-Hydroxylase