Associated Papers
Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.
Gusmano C et al.
Journal of Endocrinological Investigation, 2023
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.
Lee Y et al.
Annals of Pediatric Endocrinology & Metabolism, 2020
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.
Ko JM et al.
European Journal of Pediatrics, 2009
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.
Fukami M et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Genetic and clinical features of p450 oxidoreductase deficiency.
Scott RR et al.
Hormone Research, 2008
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.
Adachi M et al.
American Journal of Medical Genetics. Part A, 2004
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