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Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.
Okazaki, T; Saito, Y; Hayashida, T; Akaboshi, S; Miyake, N; Matsumoto, N; Kasagi, N; Adachi, K; Shinohara, Y; Nanba, E; Maegaki, Y.
Afiliación
  • Okazaki T; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
  • Saito Y; Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
  • Hayashida T; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
  • Akaboshi S; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
  • Miyake N; Division of Child Neurology, Tottori Medical Center, Tottori, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Kasagi N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Adachi K; Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
  • Shinohara Y; Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Yonago, Japan.
  • Nanba E; Division of Radiology, Department of Pathophysiological Therapeutic Science, Faculty of Medicine, Tottori University, Yonago, Japan.
  • Maegaki Y; Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
Clin Genet ; 94(3-4): 391-392, 2018 10.
Article en En | MEDLINE | ID: mdl-29888467

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Enfermedades Cerebelosas / Corteza Cerebral / Laminina / Quistes / Sustancia Blanca Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Japón

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Enfermedades Cerebelosas / Corteza Cerebral / Laminina / Quistes / Sustancia Blanca Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Japón