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  • Title: Tricho-rhino-phalangeal syndrome. The first case in Japan.
    Author: Fukushima N, Anakura M, Arashima S, Matsuda I, Ohsawa T.
    Journal: Hum Genet; 1976 May 19; 32(2):207-10. PubMed ID: 1270080.
    Abstract:
    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 cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission.
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