Art

J-GLOBAL ID：201902276789098669   Reference number：19A1250408

A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features

稀な頭蓋顔面特徴を伴う基底細胞母斑症候群における新規PTCH1変異

Author (15)： MURATA Yuka (Osaka Univ. Graduate School of Dentistry, Suita, JPN) ,  KUROSAKA Hiroshi (Osaka Univ. Graduate School of Dentistry, Suita, JPN) ,  OHATA Yasuhisa (Osaka Univ. Graduate School of Dentistry, Suita, JPN) ,  OHATA Yasuhisa (Osaka Univ. Graduate School of Medicine, Suita, JPN) ,  AIKAWA Tomonao (Osaka Univ. Graduate School of Dentistry, Suita, JPN) ,  TAKAHATA Sosuke (Osaka Univ. Graduate School of Dentistry, Suita, JPN) ,  FUJII Katsunori (Chiba Univ., Chiba, JPN) ,  MIYASHITA Toshiyuki (Kitasato Univ. Graduate School of Medical Sci., Sagamihara, JPN) ,  MORITA Chisato (Osaka Univ. Graduate School of Dentistry, Suita, JPN) ,  INUBUSHI Toshihiro (Osaka Univ. Graduate School of Dentistry, Suita, JPN) ,  KUBOTA Takuo (Osaka Univ. Graduate School of Medicine, Suita, JPN) ,  SAKAI Norio (Osaka Univ. Graduate School of Medicine, Suita, JPN) ,  OZONO Keiichi (Osaka Univ. Graduate School of Medicine, Suita, JPN) ,  KOGO Mikihiko (Osaka Univ. Graduate School of Dentistry, Suita, JPN) ,  YAMASHIRO Takashi (Osaka Univ. Graduate School of Dentistry, Suita, JPN)
Material： Human Genome Variation (Web)
Volume： 6  Issue： Apr  Page： WEB ONLY  Publication year： Apr. 2019 
JST Material Number： U1014A  ISSN： 2054-345X  Document type： Article
Article type： 短報  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： *Basal Cell Nevus Syndrome ,...

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JST classification (2)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Oral diagnosis  (GT02000Z)

Terms in the title (3)： 頭蓋顔面 ,  基底細胞母斑症候群 ,  変異