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A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I

Authors

  • Muhammad Farooq PhD,

    1. Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
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  • Hiroki Fujikawa MD,

    1. Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
    2. Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
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  • Atsushi Fujimoto MD,

    1. Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
    2. Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
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  • Yoshiaki Kubo MD, PhD,

    1. Department of Dermatology, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan
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  • Masaaki Ito MD,

    1. Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
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  • Yutaka Shimomura MD, PhD

    Corresponding author
    1. Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
    • Correspondence

      Yutaka Shimomura, md, phd

      Laboratory of Genetic Skin Diseases

      Niigata University Graduate School of Medical and Dental Sciences

      1-757 Asahimachi-dori

      Chuo-ku

      Niigata 951-8510

      Japan

      E-mail: yshimo@med.niigata-u.ac.jp

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