Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society Clinical Practice Guideline.

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Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.

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Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

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A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

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Haploinsufficiency of TNXB Is Associated with Hypermobility Type of Ehlers-Danlos Syndrome

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Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Finkielstain, G. P., Chen, W., Mehta, S. P., Fujimura, F. K., Hanna, R. M., Van Ryzin, C., McDonnell, N. B., & Merke, D. P. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0319 · Cited by 192 · see citing works

Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency.

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Molecular Genetic Analysis of Tunisian Patients with a Classic Form of 21-Hydroxylase Deficiency: Identification of Four Novel Mutations and High Prevalence of Q318X Mutation

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Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in Congenital Adrenal Hyperplasia: First technical report

Concolino, P., Mello, E., Toscano, V., Ameglio, F., Zuppi, C., & Capoluongo, E. (2009) · Clinica Chimica Acta · doi:10.1016/j.cca.2009.01.008 · Cited by 63 · see citing works

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions

Friães, A., Rêgo, A. T., Aragüés, J. M., Moura, L. F., Mirante, A., Mascarenhas, M. R., Kay, T. T., Lopes, L. A., Rodrigues, J. C., Guerra, S., et al. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2005.11.015 · Cited by 63 · see citing works

High variability in <i>CYP21A2</i> mutated alleles in Spanish 21‐hydroxylase deficiency patients, six novel mutations and a founder effect

Loidi, L., Quinteiro, C., Parajes, S., Barreiro, J., Lestón, D. G., Cabezas‐Agrícola, J. M., Sueiro, A. M., Araujo‐Vilar, D., Catro‐Feijóo, L., Costas, J., et al. (2006) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2006.02465.x · Cited by 55 · see citing works

A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency

Speiser, P., Azziz, R., Baskin, L. S., Ghizzoni, L., Hensle, T. W., Merke, D. P., Meyer‐Bahlburg, H. F. L., Miller, W. L., Montori, V. M., Oberfield, S. E., et al. (2010) · International Journal of Pediatric Endocrinology · doi:10.1155/2010/494173 · Cited by 52 · see citing works

Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency

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Molecular Analysis of CYP-21 Mutations for Congenital Adrenal Hyperplasia in Singapore

Loke, K. Y., Lee, Y. S., Lee, W. W. R., & Poh, L. K. S. (2001) · Hormone Research in Paediatrics · doi:10.1159/000049992 · Cited by 29 · see citing works

CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands

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Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency

Lee, H.-H., Lee, Y.-J., Wang, Y.-M., Chao, H.-T., Niu, D.-M., Chao, M.-C., Tsai, F.-J., Lo, F.-S., & Lin, S.-J. (2008) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2007.10.008 · Cited by 28 · see citing works

High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil

Campos, V. C., Pereira, R. M. C., Torres, N., de Castro, M., & Aguiar-Oliveira, M. H. (2009) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302009000100007 · Cited by 13 · see citing works

Lack of correlation between phenotype and genotype in untreated 21‐hydroxylase‐deficient Indonesian patients

Goossens, K., Juniarto, A. Z., Timmerman, M. A., Faradz, S. M., Wolffenbuttel, K. P., Drop, S. L. S., & de Jong, F. H. (2009) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2009.03550.x · Cited by 11 · see citing works

The Implication of De Novo 21-Hydroxylase Mutation in Clinical and Prenatal Molecular Diagnoses

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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

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Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency

Xu, C., Jia, W., Cheng, X., Ying, H., Chen, J., Xu, J., Guan, Q., Zhou, X., Zheng, D., Li, G., et al. (2019) · Molecular Genetics &amp; Genomic Medicine · doi:10.1002/mgg3.671 · Cited by 29 · see citing works

Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Kocova, M., Concolino, P., & Falhammar, H. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.788812 · Cited by 15 · see citing works

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Case Report

Alruwaili, M., Alghamdi, Y., Mohamed, Y., et al. (2022) · Scholars Journal of Medical Case Reports · doi:10.36347/sjmcr.2022.v10i10.019 · Cited by 1 · see citing works

Diagnosis, treatment and preventive measures in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in patients in adulthood

Молашенко, Н. В., Игоревна, С. А., & Troshina, E. A. (2016) · V F Snegirev Archives of Obstetrics and Gynecology · doi:10.18821/2313-8726-2016-3-1-26-32 · Cited by 3 · see citing works

AB044. Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Nguyen, M. T. P., & Nguyen, M. C. (2017) · Annals of Translational Medicine · doi:10.21037/atm.2017.s044

Mutation spectrum of CYP21A2 and correlation between genotype – phenotype in 81 Vietnamese patients with congenital adrenal hyperplasia due to 21-hydroxylase defficiency

Dũng, V. C., Khánh, T. V., Fukami, M., Phuong, L. T., Hà, N. T. T., Liêm, N. T., & Văn, T. T. (2013) · International Journal of Pediatric Endocrinology · doi:10.1186/1687-9856-2013-s1-p128