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Identification of a novel compound heterozygous mutation of the CYP21A2 gene  causing 21‑hydroxylase deficiency in a Chinese pedigree
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree

EMQN best practice guidelines for molecular genetic testing and reporting  of 21-hydroxylase deficiency | European Journal of Human Genetics
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency | European Journal of Human Genetics

Frontiers | Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A  Practical Approach
Frontiers | Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach

Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian  population - ScienceDirect
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population - ScienceDirect

Genetics of congenital adrenal hyperplasia and genotype-phenotype  correlation - ScienceDirect
Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation - ScienceDirect

Frontiers | The Complexities in Genotyping of Congenital Adrenal  Hyperplasia: 21-Hydroxylase Deficiency
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
JCM | Free Full-Text | Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia

The CYP21A2 gene and its duplicated pseudogene (CYP21A1P). a Both genes...  | Download Scientific Diagram
The CYP21A2 gene and its duplicated pseudogene (CYP21A1P). a Both genes... | Download Scientific Diagram

2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and  counseling: A case report
2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report

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
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

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
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

Frontiers | The Complexities in Genotyping of Congenital Adrenal  Hyperplasia: 21-Hydroxylase Deficiency
Frontiers | The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

Genotype–phenotype correlation in 1,507 families with congenital adrenal  hyperplasia owing to 21-hydroxylase deficiency | PNAS
Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency | PNAS

Genotyping of CYP21A2 for Congenital Adrenal Hyperplasia Screening using  Allele-Specific Primer Extension followed by Bead Array Hybridization |  SpringerLink
Genotyping of CYP21A2 for Congenital Adrenal Hyperplasia Screening using Allele-Specific Primer Extension followed by Bead Array Hybridization | SpringerLink

Novel method to characterize CYP21A2 in Florida patients with congenital  adrenal hyperplasia and commercially available cell lines - ScienceDirect
Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines - ScienceDirect

Defining The RCCX Phenotype – Metabolic Healing
Defining The RCCX Phenotype – Metabolic Healing

Different possible forms of the RCCX region and CYP21A2 gene. (a)... |  Download Scientific Diagram
Different possible forms of the RCCX region and CYP21A2 gene. (a)... | Download Scientific Diagram

Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal  hyperplasia - Chi - 2019 - Molecular Genetics & Genomic Medicine -  Wiley Online Library
Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia - Chi - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Schematic representation of the mechanism of gene conversion, where a... |  Download Scientific Diagram
Schematic representation of the mechanism of gene conversion, where a... | Download Scientific Diagram

Solved Some of the more common DSDs are shown below. Click | Chegg.com
Solved Some of the more common DSDs are shown below. Click | Chegg.com

Kit used for screening CYP21A2 gene of Chinese population - Eureka | Patsnap
Kit used for screening CYP21A2 gene of Chinese population - Eureka | Patsnap

Genotype–phenotype correlation in 1,507 families with congenital adrenal  hyperplasia owing to 21-hydroxylase deficiency | PNAS
Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency | PNAS

Genotyping of CYP21A2 for Congenital Adrenal Hyperplasia Screening using  Allele-Specific Primer Extension followed by Bead Array Hybridization |  SpringerLink
Genotyping of CYP21A2 for Congenital Adrenal Hyperplasia Screening using Allele-Specific Primer Extension followed by Bead Array Hybridization | SpringerLink

PDF] Intraspecific Evolution of Human RCCX Copy Number Variation Traced by  Haplotypes of the CYP21A2 Gene | Semantic Scholar
PDF] Intraspecific Evolution of Human RCCX Copy Number Variation Traced by Haplotypes of the CYP21A2 Gene | Semantic Scholar

Distribution of the most common mutations along the CYP21A2 gene that... |  Download Scientific Diagram
Distribution of the most common mutations along the CYP21A2 gene that... | Download Scientific Diagram

Approximate location of the CYP21A2 gene mutations | Download Scientific  Diagram
Approximate location of the CYP21A2 gene mutations | Download Scientific Diagram