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| Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome | |
| Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi | |
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Ann Pediatr Endocrinol Metab. 2023;28(2):77-86. Published online June 30, 2023 DOI: https://doi.org/10.6065/apem.2346108.054 |
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Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome Annals of Pediatric Endocrinology & Metabolism. 2023;28(2):77-86  Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras European Journal of Human Genetics. 2021;29(7):1047-1048 Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency Journal of Clinical Medicine. 2022;11(13):3818 Molecular Characterization of 25 Chinese Pedigrees with 21-Hydroxylase Deficiency Genetic Testing and Molecular Biomarkers. 2011;15(3):137-142 Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia Genetic Testing and Molecular Biomarkers. 2023;27(5):142-148 Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene Molecular Diagnosis & Therapy. 2018;22(3):261-280 EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics. 2020;28(10):1341-1367 Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency Expert Reviews in Molecular Medicine. 2007;9(11):1-23 Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) Atlas of Genetic Diagnosis and Counseling. 2006;198-206 The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency Molecular Genetics and Metabolism. 2009;97(1):75-79 |
