Congenital Arenal Hyperplasia Due to P450 Oxidoreductase Deficiency
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1818-1
Reference8 articles.
1. Bai Y, Li J, Wang X (2017) Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review. J Ovarian Res 10:16. https://doi.org/10.1186/s13048-017-0312-9. [pii]
2. But WM, Lo IF, Shek CC, Tse WY, Lam ST (2010) Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. Hong Kong Med J 16:59–62
3. Fan L, Ren X, Song Y, Su C, Fu J, Gong C (2019) Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children. Orphanet J Rare Dis 14:299. https://doi.org/10.1186/s13023-019-1283-2. [pii]
4. Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T (2006) Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. Pediatr Res 59:276–280. https://doi.org/10.1203/01.pdr.0000195825.31504.28. [pii]
5. Fukami M, Ogata T (2014) Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects. Pediatr Int 56:805–808. https://doi.org/10.1111/ped.12518
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