Published March 12, 2023 | Version v1
Dataset Open

Supplemental material for the paper "Genotype-phenotype correlation, clinical presentation, and feminizing surgery in children with congenital adrenal hyperplasia - a nationwide study"

  • 1. University of Southern Denmark

Description

This dataset provides documentation for the translation between historical nomenclature for variants in the CYP21A2 gene to the Human genome variation society nomenclature. 

Furthermore, it provides data on all Danish CYP21A2 variants included in the study and the translation into genotype groups: Null, A, B, C, and D. 

Files

supplemental_ Genotype-phenotype correlation, clinical presentation, and feminizing surgery in children with congenital adrenal hyperplasia - a nationwide study.pdf