Review
Open access
Aug 2026
Clinical and genetic spectrum of cytochrome P450 oxidoreductase deficiency in Chinese patients
Chinese patients with PORD show broad clinical heterogeneity, and p.R457H is a recurrent East Asian-enriched POR variant, which expands the POR mutational spectrum.
Ting-Ting Wang, Chong Li, Chao Han et al.
· Endocrine Connections · 0 citations