title: A novel recurrent LIS1 splice site mutation in classic lissencephaly.
authors.affiliation: Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.|INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
authors.forename: Marion
authors.initials: M
authors.lastname: Philbert
authors.affiliation: Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.|INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
authors.forename: Camille
authors.initials: C
authors.lastname: Maillard
authors.affiliation: Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.|INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
authors.forename: Mara
authors.initials: M
authors.lastname: Cavallin
authors.affiliation: Service de Génétique, CHU de Rouen et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, Université de Rouen, Rouen, France.
authors.forename: Alice
authors.initials: A
authors.lastname: Goldenberg
authors.affiliation: Plateforme Bioinformatique, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
authors.forename: Cecile
authors.initials: C
authors.lastname: Masson
authors.affiliation: Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, Paris, France.|INSERM U1000 and UMR 1163, Brain Imaging Laboratory "Image at Imagine" Institut Imagine, Paris, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boddaert
authors.affiliation: Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.|Genetic Department, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Adrienne
authors.initials: A
authors.lastname: El Morjani
authors.affiliation: Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.|Genetic Department, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Julie
authors.initials: J
authors.lastname: Steffann
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.|Centre National de la Recherche Scientifique, Illkirch, France.|Institut National de la Santé et de la Recherche Médicale, Illkirch, France.|Université de Strasbourg, Strasbourg, France.|Service de Diagnostic Génétique, Hôpital Civil de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Jamel
authors.initials: J
authors.lastname: Chelly
authors.affiliation: Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.|INSERM UMR-1163, Laboratory of Genetics in Ophthalmology, Paris, France.
authors.forename: Xavier
authors.initials: X
authors.lastname: Gerard
authors.affiliation: Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.|INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.|Pediatric Neurology, Necker Enfants Malades University Hospital, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, Paris, France.
authors.forename: Nadia
authors.initials: N
authors.lastname: Bahi-Buisson
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005091:Exons; D015870:Gene Expression; D006801:Humans; D007438:Introns; D054082:Lissencephaly / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009154:Mutation; D022821:RNA Splice Sites
chemical_list: D008869:Microtubule-Associated Proteins; D022821:RNA Splice Sites; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human
keywords: Lis1; lissencephaly; splice site mutation