![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](https://www.spandidos-publications.com/article_images/mmr/17/3/MMR-17-03-4265-g04.jpg)
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree
![The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency. - Abstract - Europe PMC The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency. - Abstract - Europe PMC](https://europepmc.org/articles/PMC6620563/bin/fendo-10-00432-g0004.jpg)
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency. - Abstract - Europe PMC
![Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein in: European Journal of Endocrinology Volume 155 Issue 1 (2006) Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein in: European Journal of Endocrinology Volume 155 Issue 1 (2006)](https://eje.bioscientifica.com/view/journals/eje/155/1/images/large/full-143F1.jpeg)
Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein in: European Journal of Endocrinology Volume 155 Issue 1 (2006)
![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](https://www.researchgate.net/publication/334236950/figure/fig3/AS:777136742866954@1562295246855/Distribution-of-the-most-common-mutations-along-the-CYP21A2-gene-that-are-transferred.png)
Distribution of the most common mutations along the CYP21A2 gene that... | Download Scientific Diagram
![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](https://www.pnas.org/cms/10.1073/pnas.1300057110/asset/b0c4f55d-f6a6-4125-b366-df56b684d540/assets/graphic/pnas.1300057110fig01.jpeg)
Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency | PNAS
![A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia](https://www.degruyter.com/document/doi/10.1515/jpem.2011.038/asset/graphic/jpem.2011.038_fig3.jpg)
A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia
![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](https://www.pnas.org/cms/10.1073/pnas.1300057110/asset/f3ef51bc-602b-4c04-825a-8b8941c9cdce/assets/graphic/pnas.1300057110fig02.jpeg)
Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency | PNAS
![CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants - Simonetti - 2018 - Human Mutation - Wiley Online Library CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants - Simonetti - 2018 - Human Mutation - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/f2b864e3-64d8-4037-9693-377926ca0cce/humu23351-fig-0002-m.jpg)
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants - Simonetti - 2018 - Human Mutation - Wiley Online Library
![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](https://www.researchgate.net/publication/326039841/figure/fig3/AS:962161551634440@1606408598487/The-CYP21A2-gene-and-its-duplicated-pseudogene-CYP21A1P-a-Both-genes-are-located-30kb.png)
The CYP21A2 gene and its duplicated pseudogene (CYP21A1P). a Both genes... | Download Scientific Diagram
![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](https://www.researchgate.net/publication/334236950/figure/fig1/AS:777136742871041@1562295246760/Schematic-representation-of-the-mechanism-of-gene-conversion-where-a-misalignment.png)
Schematic representation of the mechanism of gene conversion, where a... | Download Scientific Diagram
![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](https://www.mdpi.com/jcm/jcm-10-01183/article_deploy/html/images/jcm-10-01183-g001.png)
JCM | Free Full-Text | Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia
![Location of the PCR primers used to detect the mutations in CYP21A2 gene | Download Scientific Diagram Location of the PCR primers used to detect the mutations in CYP21A2 gene | Download Scientific Diagram](https://www.researchgate.net/publication/225061171/figure/fig1/AS:202732402155531@1425346579275/Location-of-the-PCR-primers-used-to-detect-the-mutations-in-CYP21A2-gene.png)
Location of the PCR primers used to detect the mutations in CYP21A2 gene | Download Scientific Diagram
![Frontiers | The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency Frontiers | The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency](https://www.frontiersin.org/files/Articles/433064/fendo-10-00432-HTML-r1/image_m/fendo-10-00432-g002.jpg)
Frontiers | The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
![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](https://media.springernature.com/lw685/springer-static/image/art%3A10.1007%2FBF03256346/MediaObjects/40291_2012_BF03256346_Fig2.jpg)
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](https://ars.els-cdn.com/content/image/1-s2.0-S2214426914000445-gr1.jpg)