Linking Antley–Bixler syndrome and congenital adrenal hyperplasia: A novel case of P450 oxidoreductase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference31 articles.
1. A Male Patient Presenting with Major Clinical Symptoms of Glucocorticoid Deficiency and Skeletal Dysplasia, showing a Steroid Pattern Compatible with 17.ALPHA.-Hydroxylase/ 17, 20-Lyase Deficiency, but without Obvious CYP 17 Gene Mutations.
2. Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: Apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase
3. Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome
4. Multiple malformation syndrome following fluconazole use in pregnancy: Report of an additional patient
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1. Exploring Novel Variants of the Cytochrome P450 Reductase Gene (POR) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional Assays;Biomolecules;2023-11-30
2. 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
3. P450 oxidoreductase deficiency;Genetic Steroid Disorders;2023
4. In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase;Molecules;2022-07-21
5. Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature;Journal of Endocrinological Investigation;2022-07-17
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