New Horizons: Molecular Basis and Novel Therapeutics in Congenital Adrenal Hyperplasia

Author:

Prasad Rajendra,Deswal Sonia

Publisher

Springer Science and Business Media LLC

Subject

Clinical Biochemistry

Reference10 articles.

1. Wedell A. Molecular genetic of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment. Acta Paediatr. 1998;87:159–64.

2. Kira D, Guney A, Akcay T, Guran T, Ulucan K, et al. The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients. Ann Hum Genet. 2014. https://doi.org/10.1111/ahs.12083.

3. Kawashima Y, Usui T, Fiyimoto M, Miyahar N, Nishimura R. A rare CYP21 mutation (P.E431K) induced dactivation of CYP21A2 and resulted in congenital adrenal hyperplasia. Japan Endo Soc. 2014;1:1–5.

4. Mathur R, Verma IC, Kabra M, Menon PSN. Molecular characterization of mutations in congenital adrenal hyperplasia in Indian patients. Ind J Hum Genet. 1998;4:106–7.

5. Khajuria R, Walia R, Bhansali A, Prasad R. The spectrum of CYP21A2 mutations in congenital adrenal hyperplasia in an Indian Cohort. Clin Chim Acta. 2017;464:189–94.

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1. Models of Congenital Adrenal Hyperplasia for Gene Therapies Testing;International Journal of Molecular Sciences;2023-03-10

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