Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization
Corresponding Author
Dr. Katsumi Goji
Department of Endocrinology and Metabolism, Kobe Children's Hospital, Kobe 654, Japan
Department of Endocrinology and Metabolism, Kobe Children's Hospital, 1-1-1 Takakuradai, Suma-ku, Kobe 654, JapanSearch for more papers by this authorEüi Nishijima
Department of Surgery, Kobe Children's Hospital, Kobe 654, Japan
Search for more papers by this authorChikara Tsugawa
Department of Surgery, Kobe Children's Hospital, Kobe 654, Japan
Search for more papers by this authorHisahide Nishio
Department of Public Health, Kobe University School of Medicine, Kobe 654, Japan
Search for more papers by this authorRohit Kumar Pokharel
International Center for Medical Research, Kobe University School of Medicine, Kobe 654, Japan
Search for more papers by this authorMasafumi Matsuo
International Center for Medical Research, Kobe University School of Medicine, Kobe 654, Japan
Search for more papers by this authorCorresponding Author
Dr. Katsumi Goji
Department of Endocrinology and Metabolism, Kobe Children's Hospital, Kobe 654, Japan
Department of Endocrinology and Metabolism, Kobe Children's Hospital, 1-1-1 Takakuradai, Suma-ku, Kobe 654, JapanSearch for more papers by this authorEüi Nishijima
Department of Surgery, Kobe Children's Hospital, Kobe 654, Japan
Search for more papers by this authorChikara Tsugawa
Department of Surgery, Kobe Children's Hospital, Kobe 654, Japan
Search for more papers by this authorHisahide Nishio
Department of Public Health, Kobe University School of Medicine, Kobe 654, Japan
Search for more papers by this authorRohit Kumar Pokharel
International Center for Medical Research, Kobe University School of Medicine, Kobe 654, Japan
Search for more papers by this authorMasafumi Matsuo
International Center for Medical Research, Kobe University School of Medicine, Kobe 654, Japan
Search for more papers by this author
References
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