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J-GLOBAL ID：201902210609843922   Reference number：19A1316665

A clinical and genetic study of 16 Japanese families with Waardenburg syndrome

Waardenburg症候群の日本人16家系の臨床的および遺伝学的研究【JST・京大機械翻訳】

Author (11)： Minami Shujiro B. (Department of Otolaryngology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan) ,  Minami Shujiro B. (Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan) ,  Nara Kiyomitsu (Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan) ,  Mutai Hideki (Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan) ,  Morimoto Noriko (Department of Otorhinolaryngology, National Center for Child Health and Development, Tokyo, Japan) ,  Sakamoto Hirokazu (Department of Otolaryngology, Head and Neck Surgery, Osaka City University, Osaka, Japan) ,  Takiguchi Tetsuya (Department of Otolaryngology, National Hospital Organization Kanazawa Medical Center, Kanazawa, Japan) ,  Kaga Kimitaka (Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan) ,  Kaga Kimitaka (Center for Speech and Hearing Disorders, International University of Health and Welfare, Tochigi, Japan) ,  Matsunaga Tatsuo (Department of Otolaryngology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan) ,  Matsunaga Tatsuo (Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan)
Material： Gene  (International Journal Focusting on Gene Cloning and Gene Structure and Function)
Volume： 704  Page： 86-90  Publication year： 2019 
JST Material Number： E0701B  ISSN： 0378-1119  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： The purpose of this study is t...

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Thesaurus term： human(primates) ,  *pedigree ,  sensorineural hearing loss ,  diagnosis ,  *heredity ,  formulation ,  race ,  mutation
Semi thesaurus term： 聴力損失 ,  民族性 ,  小眼球症関連転写因子 ,  遺伝子検査 ,  頭蓋 ,  遺伝学研究 ,  *日本人 ,  *Waardenburg症候群 , 【Automatic Indexing@JST】

Author keywords (8)： Classification ,  Diagnosis ,  Dystopia canthorum ,  Hearing loss ,  Mutation ,  Type ,  Waardenburg syndrome ,  W index

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Genetic variation  (EC01030Y)

Terms in the title (5)： Waardenburg症候群 ,  日本人 ,  家系 ,  臨床 ,  遺伝学的研究