CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/5200543.pdf
Cited by 21 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency;The Journal of Clinical Endocrinology & Metabolism;2022-04-01
2. Genes and Pseudogenes: Complexity of the RCCX Locus and Disease;Frontiers in Endocrinology;2021-07-30
3. A rare CYP21A2 haplotype clarifies the phenotype–genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH);Molecular Biology Reports;2020-03-17
4. Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene;Molecular Diagnosis & Therapy;2018-02-15
5. A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics;European Journal of Human Genetics;2017-04-12
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