POR R457H is a global founder mutation causing Antley–Bixler syndrome with autosomal recessive trait
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference12 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. Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome
3. Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: Apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase
4. Multiple malformation syndrome following fluconazole use in pregnancy: Report of an additional patient
5. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study
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1. Disorders of Adrenal Steroid Biosynthesis Defects;Reference Module in Life Sciences;2024
2. Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency;Frontiers in Endocrinology;2022-11-28
3. Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency;Annals of Pediatric Endocrinology & Metabolism;2020-06-30
4. A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene;Annals of Laboratory Medicine;2017-11-01
5. Genetics of Congenital Adrenal Hyperplasia;Endocrinology and Metabolism Clinics of North America;2017-06
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