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[Retinal vasculopathy with cerebral leukoencephalopathy carrying TREX1 mutation diagnosed by the intracranial calcification: a case report].
Komaki, Ryouhei; Ueda, Takehiro; Tsuji, Yukio; Miyawaki, Toko; Kusuhara, Sentaro; Hara, Shigeo; Toda, Tatsushi.
Afiliação
  • Komaki R; Division of Neurology, Kobe University Graduate School of Medicine.
  • Ueda T; Department of Neurology, Kita-Harima Medical Center.
  • Tsuji Y; Division of Neurology, Kobe University Graduate School of Medicine.
  • Miyawaki T; Division of Neurology, Kobe University Graduate School of Medicine.
  • Kusuhara S; Division of Neurology, Kobe University Graduate School of Medicine.
  • Hara S; Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine.
  • Toda T; Department of Diagnostic Pathology, Kobe University Hospital.
Rinsho Shinkeigaku ; 58(2): 111-117, 2018 Feb 28.
Article em Ja | MEDLINE | ID: mdl-29386495
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoproteínas / Vasculite Retiniana / Exodesoxirribonucleases / Cérebro / Leucoencefalopatias / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Humans / Male Idioma: Ja Revista: Rinsho Shinkeigaku Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoproteínas / Vasculite Retiniana / Exodesoxirribonucleases / Cérebro / Leucoencefalopatias / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Humans / Male Idioma: Ja Revista: Rinsho Shinkeigaku Ano de publicação: 2018 Tipo de documento: Article