Review
Open access
Aug 2026
Clinical and genetic spectrum of cytochrome P450 oxidoreductase deficiency in Chinese.
BACKGROUND Cytochrome P450 oxidoreductase deficiency (PORD) is a rare autosomal recessive disorder with heterogeneous endocrine, reproductive, DSD-related, and skeletal manifestations. Population-specific data in Chinese patients remain limited. METHODS We described two Chinese probands with genetically confirmed POR...
Ting-Ting Wang, Chong Li, Chao Han et al.
· Endocrine Connections · 0 citations