< b > < i > CYP21A2 < /i > < /b > Gene Pathogenic Variants: A Multicenter Study on Genotype –Phenotype Correlation from a Portuguese Pediatric Cohort

Conclusion: Our cohort has one of the largest NC CAH pediatric populations described. We emphasize the high frequency of the p.(Val282Leu) variant and the very high genotype –phenotype correlation observed.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research