• Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.

      Sahakitrungruang, Taninee; Huang, Ningwu; Tee, Meng Kian; Agrawal, Vishal; Russell, William E; Crock, Patricia; Murphy, Nuala; Migeon, Claude J; Miller, Walter L; Department of Pediatrics, University of California San Francisco, San Francisco, California 94143, USA. (2009-12)
      P450 oxidoreductase (POR) deficiency causes disordered steroidogenesis; severe mutations cause genital ambiguity in both sexes plus the Antley-Bixler skeletal malformation syndrome, whereas mild mutations can cause adult infertility.