Art

J-GLOBAL ID：201802249076292196   Reference number：18A0457970

Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1

ワールデンブルグ症候群1型患者におけるホモ接合EDNRB変異

Author (7)： Morimoto Noriko (Division of Otolaryngology, National Center for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan) ,  Mutai Hideki (Division of Hearing and Balance Research, National Institute of Sensory Organ, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152-8902, Japan) ,  Namba Kazunori (Division of Hearing and Balance Research, National Institute of Sensory Organ, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152-8902, Japan) ,  Kaneko Hiroki (The Institute of Natural Sciences, College of Humanities and Sciences, Nihon University, 3-25-40 Sakurajosui, Segataya, Tokyo 156-8550, Japan) ,  Kosaki Rika (Division of Medical Genetics, National Center for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan) ,  Matsunaga Tatsuo (Division of Hearing and Balance Research, National Institute of Sensory Organ, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152-8902, Japan) ,  Matsunaga Tatsuo (Medical Genetics Center, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152-8902, Japan)
Material： Auris Nasus Larynx  (International Journal of ORL & HNS)
Volume： 45  Issue： 2  Page： 222-226  Publication year： Apr. 2018 
JST Material Number： W2247A  ISSN： 0385-8146  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： genetic variation ,...

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Author keywords (5)： Waardenburg syndrome ,  Dystopia canthorum ,  EDNRB ,  Hearing loss ,  Hirschsprung’s disease

JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Terms in the title (4)： ワールデンブルグ症候群 ,  患者 ,  ホモ接合 ,  変異