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| Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia | |
| Hamza Nasir, Syed Ibaad Ali, Naeem Haque, Stefan K. Grebe, Salman Kirmani | |
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Ann Pediatr Endocrinol Metab. 2018;23(3):158-161. Published online September 28, 2018 DOI: https://doi.org/10.6065/apem.2018.23.3.158 |
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Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia Annals of Pediatric Endocrinology & Metabolism. 2018;23(3):158-161  A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia Endocrine. 2021;73(1):196-202 SUN-204 Case of Non-Classic Congenital Adrenal Hyperplasia with Compound CYP21A2 Mutations Combined with CYP11B1 Mutation Journal of the Endocrine Society. 2020;4(Supplement_1): Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl Journal of Endocrinological Investigation. 2007;30(9):806-807 Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of theCYP21A2Gene Case Reports in Genetics. 2011;2011:1-3 PSAT047 Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia Journal of the Endocrine Society. 2022;6(Supplement_1):A461-A461 Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia AACE Clinical Case Reports. 2022;8(6):271-274 Other Blocks in the Pathway Causing Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia. 2017;57-69 Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants Hormones. 2021;21(1):155-161 Abstract #803912: Consider Nonclassic Congenital Adrenal Hyperplasia in Patients With Adrenal Incidentaloma Endocrine Practice. 2020;26:13 |
