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.

Afiliación

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 en En | MEDLINE | ID: mdl-32643282

Asunto(s)

Proteínas Portadoras/genética; Predisposición Genética a la Enfermedad; Microcefalia/genética; Adolescente; Niño; Preescolar; Femenino; Humanos; Microcefalia/diagnóstico; Microcefalia/patología; Proteínas Asociadas a Microtúbulos/genética; Mutación/genética

Palabras clave

CEP135; neuronal migration defect; primary microcephaly; subcortical heterotopia

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Portadoras / Predisposición Genética a la Enfermedad / Microcefalia Tipo de estudio: Diagnostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Alemania

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