Associated Papers
Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-Hydroxylase Deficiency in 457 Individuals.
Lao Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genetic aetiology of primary adrenal insufficiency in Chinese children.
Chang Z et al.
Bmc Medical Genomics, 2021
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer S et al.
European Journal of Human Genetics : Ejhg, 2020
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
Concolino P et al.
Molecular Diagnosis & Therapy, 2018
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
CYP21A2 intronic variants causing 21-hydroxylase deficiency.
Concolino P et al.
Metabolism: Clinical and Experimental, 2017
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Finkielstain GP et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Gene symbol: CYP21A2. Disease: Non-classic 21-Hydroxylase deficiency.
Capoluongo E et al.
Human Genetics, 2008
Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency.
Concolino P et al.
Human Genetics, 2007
Select a paper to view details