• A spectrum of recessiveness among Mendelian disease variants in UK Biobank
• Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report
• Classic and current concepts in adrenal steroidogenesis: a reappraisal
• Clinical and genetic analysis of a pedigree affected with cytochrome P450 oxidoreductase deficiency
• Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
• Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review
• Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype
• Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene
• Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene
• Fracture in Humeroradial Synostosis: Description of Two Clinical Cases
• Identifying the Misshapen Head: Craniosynostosis and Related Disorders
• In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase
• Low-birth-weight infant with Antley-Bixler syndrome-like phenotype caused by POR mutation: a rare case report
• Next-Generation Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Combined Features of Spherocytosis and Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis
• Steroidogenic electron-transfer factors and their diseases
• The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration
• Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement