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Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene.
Miyata, Yohane; Saida, Ken; Kumada, Satoko; Miyake, Noriko; Mashimo, Hideaki; Nishida, Yuya; Shirai, Ikuko; Kurihara, Eiji; Nakata, Yasuhiro; Matsumoto, Naomichi.
Afiliação
  • Miyata Y; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan; Department of Pediatrics, Kyorin University School of Medicine, Tokyo, Japan. Electronic address: miyata-y@ks.kyorin-u.ac.jp.
  • Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
  • Kumada S; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
  • Mashimo H; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Nishida Y; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Shirai I; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Kurihara E; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Nakata Y; Department of Neuroradiology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
Brain Dev ; 40(7): 566-569, 2018 Aug.
Article em En | MEDLINE | ID: mdl-29678278
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Mutação de Sentido Incorreto / Síndrome de Coffin-Lowry / Proteínas Quinases S6 Ribossômicas 90-kDa Tipo de estudo: Diagnostic_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Brain Dev Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Mutação de Sentido Incorreto / Síndrome de Coffin-Lowry / Proteínas Quinases S6 Ribossômicas 90-kDa Tipo de estudo: Diagnostic_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Brain Dev Ano de publicação: 2018 Tipo de documento: Article