Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 PatientsMaki Fukami, Tsutomu Ogata, Shun Soneda et al.|The Journal of Clinical Endocrinology & Metabolism|2005Cited by 159
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue DisordersMasahiro Nakajima, Shiro Ikegawa, Shuji Mizumoto et al.|The American Journal of Human Genetics|2013Cited by 138
Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese PatientsMaki Fukami, Tsutomu Ogata, Gen Nishimura et al.|The Journal of Clinical Endocrinology & Metabolism|2009Cited by 114
Cytochrome P450 Oxidoreductase Deficiency in Three Patients Initially Regarded as Having 21-Hydroxylase Deficiency and/or Aromatase Deficiency: Diagnostic Value of Urine Steroid Hormone AnalysisMaki Fukami, Tsutomu Ogata, Tomonobu Hasegawa et al.|Pediatric Research|2006Cited by 79