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References

These sources were used to develop the Genetics Home Reference gene summary on the CYP21A2 gene.

Entrez Gene
Hughes IA. Congenital adrenal hyperplasia: 21-hydroxylase deficiency in the newborn and during infancy. Semin Reprod Med. 2002 Aug;20(3):229-42. Review. PubMed citation
Huynh T, McGown I, Cowley D, Nyunt O, Leong GM, Harris M, Cotterill AM. The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Clin Biochem Rev. 2009 May;30(2):75-86. PubMed citation
Keen-Kim D, Redman JB, Alanes RU, Eachus MM, Wilson RC, New MI, Nakamoto JM, Fenwick RG. Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency). J Mol Diagn. 2005 May;7(2):236-46. PubMed citation
Krone N, Riepe FG, Grötzinger J, Partsch CJ, Sippell WG. Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2005 Jan;90(1):445-54. Epub 2004 Oct 13. PubMed citation
Lee HH. Diversity of the CYP21P-like gene in CYP21 deficiency. DNA Cell Biol. 2005 Jan;24(1):1-9. Review. PubMed citation
New MI. An update of congenital adrenal hyperplasia. Ann N Y Acad Sci. 2004 Dec;1038:14-43. PubMed citation
Nimkarn S, Lin-Su K, New MI. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2009 Dec;38(4):699-718. doi: 10.1016/j.ecl.2009.08.001. Review. PubMed citation
OMIM: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
Torres N, Mello MP, Germano CM, Elias LL, Moreira AC, Castro M. Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia. Braz J Med Biol Res. 2003 Oct;36(10):1311-8. Epub 2003 Sep 16. PubMed citation


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