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Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
Nakashima, Mitsuko; Takano, Kyoko; Osaka, Hitoshi; Aida, Noriko; Tsurusaki, Yoshinori; Miyake, Noriko; Saitsu, Hirotomo; Matsumoto, Naomichi.
Afiliación
  • Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Takano K; 1] Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan [2] Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Osaka H; 1] Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan [2] Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
  • Aida N; Department of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
J Hum Genet ; 59(8): 471-4, 2014 Aug.
Article en En | MEDLINE | ID: mdl-24965255
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Convulsiones / Cadherinas / Discapacidades del Desarrollo / Fosfotransferasas (Aceptor de Grupo Alcohol) / Enzimas Reparadoras del ADN / Pérdida Auditiva / Microcefalia Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Japón
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Convulsiones / Cadherinas / Discapacidades del Desarrollo / Fosfotransferasas (Aceptor de Grupo Alcohol) / Enzimas Reparadoras del ADN / Pérdida Auditiva / Microcefalia Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Japón