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A heterozygous mutation in the SAM domain of p63 underlies a mild form of ectodermal dysplasia.
Kawai, Toru; Hayashi, Ryota; Nakai, Hiroyuki; Shimomura, Yutaka; Kurban, Mazen; Hamie, Lamiaa; Fujikawa, Hiroki; Fujimoto, Atsushi; Abe, Riichiro.
Afiliación
  • Kawai T; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Hayashi R; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. Electronic address: rh19840629@med.niigata-u.ac.jp.
  • Nakai H; Graduate School of Science and Technology, Niigata University, Niigata, Japan.
  • Shimomura Y; Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Japan.
  • Kurban M; Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon; Department of Biochemistry and Molecular Genetics, American University of Beirut Medical Center, Beirut, Lebanon; Department of Dermatology, Columbia University Medical Center, New York, USA.
  • Hamie L; Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Fujikawa H; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Fujimoto A; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Abe R; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
J Dermatol Sci ; 90(3): 360-363, 2018 Jun.
Article en En | MEDLINE | ID: mdl-29526522

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Displasia Ectodérmica / Mutación Missense / Proteínas Supresoras de Tumor / Heterocigoto Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: J Dermatol Sci Asunto de la revista: DERMATOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Países Bajos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Displasia Ectodérmica / Mutación Missense / Proteínas Supresoras de Tumor / Heterocigoto Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: J Dermatol Sci Asunto de la revista: DERMATOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Países Bajos