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Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
López-Hernández, Tania; Ridder, Margreet C; Montolio, Marisol; Capdevila-Nortes, Xavier; Polder, Emiel; Sirisi, Sònia; Duarri, Anna; Schulte, Uwe; Fakler, Bernd; Nunes, Virginia; Scheper, Gert C; Martínez, Albert; Estévez, Raúl; van der Knaap, Marjo S.
Affiliation
  • López-Hernández T; Sección de Fisiología, Departamento de Ciencias Fisiologicas II, University of Barcelona, 08907 Barcelona, Spain.
Am J Hum Genet ; 88(4): 422-32, 2011 Apr 08.
Article in En | MEDLINE | ID: mdl-21419380
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Proteins / Cell Adhesion Molecules, Neuronal / Megalencephaly / Intellectual Disability / Mutation Type of study: Etiology_studies Limits: Animals / Humans Language: En Journal: Am J Hum Genet Year: 2011 Type: Article Affiliation country: Spain
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Proteins / Cell Adhesion Molecules, Neuronal / Megalencephaly / Intellectual Disability / Mutation Type of study: Etiology_studies Limits: Animals / Humans Language: En Journal: Am J Hum Genet Year: 2011 Type: Article Affiliation country: Spain