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Tricho-rhino-phalangeal syndrome

The first case in Japan

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Summary

The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and coneshaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission.

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References

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Authors and Affiliations

  1. Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan

    Naoki Fukushima, Michiya Anakura, Shinichiro Arashima & Ichiro Matsuda

  2. Department of Radiology, Jichi Medical School, Minamikawachi-Machi, Kawachi-Gun, Tochigi-Ken, Japan

    Tadashi Ohsawa

Authors
  1. Naoki Fukushima
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  2. Michiya Anakura
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  3. Shinichiro Arashima
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  4. Ichiro Matsuda
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  5. Tadashi Ohsawa
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Fukushima, N., Anakura, M., Arashima, S. et al. Tricho-rhino-phalangeal syndrome. Hum Genet 32, 207–210 (1976). https://doi.org/10.1007/BF00291506

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  • DOI: https://doi.org/10.1007/BF00291506

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