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

Okazaki, T; Saito, Y; Hayashida, T; Akaboshi, S; Miyake, N; Matsumoto, N; Kasagi, N; Adachi, K; Shinohara, Y; Nanba, E; Maegaki, Y.

Affiliation

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 de En | MEDLINE | ID: mdl-29888467

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Maladies du cervelet / Cortex cérébral / Laminine / Kystes / Substance blanche Limites: Adolescent / Child / Female / Humans / Male Langue: En Journal: Clin Genet Année: 2018 Type de document: Article Pays d'affiliation: Japon Pays de publication: Danemark

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