GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and cerebellar hypoplasia. Recent investigations of a GPR56 knockout mouse model suggest that bilateral bifron...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2010-11, Vol.133 (11), p.3194-3209
Hauptverfasser:	Bahi-Buisson, Nadia, Poirier, Karine, Boddaert, Nathalie, Fallet-Bianco, Catherine, Specchio, Nicola, Bertini, Enrico, Caglayan, Okay, Lascelles, Karine, Elie, Caroline, Rambaud, Jérôme, Baulac, Michel, An, Isabelle, Dias, Patricia, des Portes, Vincent, Moutard, Marie Laure, Soufflet, Christine, El Maleh, Monique, Beldjord, Cherif, Villard, Laurent, Chelly, Jamel
Format:	Artikel
Sprache:	eng
Schlagworte:	Abortion, Induced Adolescent Adult Biological and medical sciences Child Child, Preschool cobblestone lissencephaly Cobblestone Lissencephaly - diagnosis Cobblestone Lissencephaly - genetics Cobblestone Lissencephaly - pathology Female Fetal Diseases - genetics Fetal Diseases - pathology Frameshift Mutation Frontal Lobe - pathology Genes, Overlapping Genetics GPR56 Human health and pathology Humans Infant Life Sciences Male Malformations of Cortical Development - diagnosis Malformations of Cortical Development - genetics Malformations of Cortical Development - pathology Medical sciences Mutation, Missense Neurology neuronal migration disorders Neurons and Cognition Parietal Lobe - pathology Pedigree pial basement membrane Pneumology polymicrogyria radial glia cells Receptors, G-Protein-Coupled - genetics Syndrome Tumors of the respiratory system and mediastinum Young Adult
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