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J-GLOBAL ID：201402238531765905   Reference number：14A0788588

A novel TRPS1 mutation in a family with tricho-rhino-phalangeal syndrome type 1

毛髪鼻指節骨症候群1型家系の新しいTRPS1変異

Author (4)： FUJISAWA Tomomi (Gifu Univ. Graduate School of Medicine, Gifu) ,  FUKAO Toshiyuki (Gifu Univ. Graduate School of Medicine, Gifu) ,  SHIMOMURA Yutaka (Niigata Univ. Graduate School of Medical and Dental Sci., Niigata, JPN) ,  SEISHIMA Mariko (Gifu Univ. Graduate School of Medicine, Gifu)
Material： Journal of Dermatology  (J Dermatol)
Volume： 41  Issue： 6  Page： 514-517  Publication year： Jun. 2014 
JST Material Number： W1578A  ISSN： 0385-2407  Document type： Article
Article type： 原著論文  Country of issue： Australia (AUS)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： genetic variation ,...

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JST classification (2)： Clinical dermatology in general  (GF01030J) ,  Genetic variation  (EC01030Y)

Reference (10)：

• Lüdecke HJ, Schaper J, Meinecke P et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 2001; 68: 81-91.
• Giedion A. Tricho-rhino-phalangeal syndrome. Helv Paediatr Acta 1996; 21: 475-485.
• Langer LO Jr, Krassikoff N, Laxova R et al. The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature. Am J Med Genet 1984; 19: 81-112.
• Niikawa N, Kamei T. The Sugio-Kajii syndrome, proposed trichorhino-phalangeal syndrome type III. Am J Med Genet 1986; 24 : 759-760.
• Sugio Y, Kajii T. Ruvalcaba syndrome: autosomal dominant inheritance. Am J Med Genet 1984; 19: 741-753.

Terms in the title (6)： 毛髪 ,  鼻 ,  指節骨 ,  症候群 ,  家系 ,  変異