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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
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   Crossref logo
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Other Blocks in the Pathway Causing Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia. 2017;57-69   Crossref logo
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Nonclassic Congenital Adrenal Hyperplasia: An Overview
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Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia
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Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia
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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   Crossref logo
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In vitrofunctional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia
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ID: 1048 A novel nonsense mutation in the CYP21A2 gene of a Vietnamese patient with congenital adrenal hyperplasia
Biomedical Research and Therapy. 2017;4(S):129   Crossref logo
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Common Forms of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia. 2017;41-55   Crossref logo
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