Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency | PNAS
Frontiers | The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes
A new CYP21A1P/CYP21A2chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form | BMC Medical Genetics | Full Text
Schematic representation of the mechanism of gene conversion, where a... | Download Scientific Diagram
Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation - ScienceDirect
2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population - ScienceDirect
Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia - Chi - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree
Frontiers | The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
CYP21A2 Gene - GeneCards | CP21A Protein | CP21A Antibody
Genotyping of CYP21A2 for Congenital Adrenal Hyperplasia Screening using Allele-Specific Primer Extension followed by Bead Array Hybridization | SpringerLink
Different possible forms of the RCCX region and CYP21A2 gene. (a)... | Download Scientific Diagram
Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene | Journal of Medical Genetics
Genotyping of CYP21A2 for Congenital Adrenal Hyperplasia Screening using Allele-Specific Primer Extension followed by Bead Array Hybridization | SpringerLink
Figure 3 from Molecular genetics of 21-hydroxylase deficiency. | Semantic Scholar
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency | European Journal of Human Genetics
Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene | Hormones
Overcoming high homology to detect variation in CYP21A2 with whole-genome sequencing in DRAGEN
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants - Simonetti - 2018 - Human Mutation - Wiley Online Library
Approximate location of the CYP21A2 gene mutations | Download Scientific Diagram
Frontiers | The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
JCM | Free Full-Text | Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia
Frontiers | Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach
