Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement
Author:
Affiliation:
1. Division of Pediatrics, Department of Homeostatic Regulation and Development Niigata University Graduate School of Medical and Dental Sciences Niigata Japan
2. Department of Pediatrics Gunma University Graduate School of Medicine Maebashi Japan
Publisher
Wiley
Subject
Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cga.12434
Reference6 articles.
1. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
2. Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan
3. Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients
4. Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects
5. Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
Cited by 2 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. Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype;Frontiers in Endocrinology;2023-08-11
2. In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase;Molecules;2022-07-21
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