Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.

Bamborschke, Daniel; Daimagüler, Hülya-Sevcan; Hahn, Andreas; Hussain, Muhammad S; Nürnberg, Peter; Cirak, Sebahattin

Bamborschke, Daniel; Daimagüler, Hülya-Sevcan; Hahn, Andreas; Hussain, Muhammad S; Nürnberg, Peter; Cirak, Sebahattin.

Afiliação

Bamborschke D; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Daimagüler HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Hahn A; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Hussain MS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Nürnberg P; Department of Child Neurology, Justus-Liebig-University Giessen, Giessen, Germany.
Cirak S; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

Am J Med Genet A ; 182(10): 2450-2453, 2020 10.

Article em En | MEDLINE | ID: mdl-32643282

Assuntos

Proteínas de Transporte/genética; Predisposição Genética para Doença; Microcefalia/genética; Adolescente; Criança; Pré-Escolar; Feminino; Humanos; Microcefalia/diagnóstico; Microcefalia/patologia; Proteínas Associadas aos Microtúbulos/genética; Mutação/genética

Palavras-chave

CEP135; neuronal migration defect; primary microcephaly; subcortical heterotopia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Predisposição Genética para Doença / Microcefalia Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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