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
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
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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