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, Reiko Horikawa et al.|The Journal of Clinical Endocrinology & Metabolism|2005Cited by 159
Protein-Tyrosine Phosphatase, Nonreceptor Type 11 Mutation Analysis and Clinical Assessment in 45 Patients with Noonan SyndromeRie Yoshida, Tsutomu Ogata, Reiko Horikawa et al.|The Journal of Clinical Endocrinology & Metabolism|2004Cited by 115
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidanceMehmet Umut Akyol, Maurizio Scarpa, Paul Harmatz et al.|Orphanet Journal of Rare Diseases|2019Cited by 114
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype–genotype correlation in Japanese patients with pachydermoperiostosisTakashi Sasaki, Jun Kudoh, Aiko Shiohama et al.|Journal of Dermatological Science|2012Cited by 83
Pathological characterization of pachydermia in pachydermoperiostosisKeiji Tanese, Akira Ishiko, Aiko Shiohama et al.|The Journal of Dermatology|2015Cited by 38