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Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.
Taniguchi-Ikeda, M; Morisada, N; Inagaki, H; Ouchi, Y; Takami, Y; Tachikawa, M; Satake, W; Kobayashi, K; Tsuneishi, S; Takada, S; Yamaguchi, H; Nagase, H; Nozu, K; Okamoto, N; Nishio, H; Toda, T; Morioka, I; Wada, H; Kurahashi, H; Iijima, K.
Afiliação
  • Taniguchi-Ikeda M; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Morisada N; Division of Genetic Counseling, Kobe University Hospital, Kobe, Japan.
  • Inagaki H; Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital Perinatal Center, Kobe, Japan.
  • Ouchi Y; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
  • Takami Y; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
  • Tachikawa M; Department of Pediatrics, Himeji Red Cross Hospital, Himeji, Japan.
  • Satake W; Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Kobayashi K; Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Tsuneishi S; Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Takada S; Medical and Welfare Center Kizuna, Kasai, Japan.
  • Yamaguchi H; Kobe University Graduate School of Health Sciences, Kobe, Japan.
  • Nagase H; Department of Neonatology, Hyogo Prefectural Kobe Children's Hospital Perinatal Center, Kobe, Japan.
  • Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Okamoto N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Nishio H; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Toda T; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Morioka I; Division of Genetic Counseling, Kobe University Hospital, Kobe, Japan.
  • Wada H; Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Kurahashi H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Iijima K; Medical and Welfare Center Sakura, Sanda, Japan.
Clin Genet ; 93(4): 931-933, 2018 04.
Article em En | MEDLINE | ID: mdl-29243230
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Apraxias / Convulsões / Fosfotransferases (Aceptor do Grupo Álcool) / Enzimas Reparadoras do DNA / Síndrome de Cogan / Microcefalia Limite: Adult / Child / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Apraxias / Convulsões / Fosfotransferases (Aceptor do Grupo Álcool) / Enzimas Reparadoras do DNA / Síndrome de Cogan / Microcefalia Limite: Adult / Child / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article