Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

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作者： Camille,Maillard ^[1] ; Mara,Cavallin ^[2] ; Kevin,Piquand ^[1] ; Marion,Philbert ^[2] ; Jean Philippe,Bault ^[1] ; Anne Elodie,Millischer ^[2] ; Despina,Moshous ^[1] ; Marlène,Rio ^[2] ; Cyril,Gitiaux ^[3] ; Nathalie,Boddaert ^[4] ; Cecile,Masson ^[5] ; Sophie,Thomas ^[1] ; Nadia,Bahi-Buisson ^[6]

作者单位： Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. ^[1] INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France. ^[2] CHU Bicêtre Departments of Obstetrics, Bicetre University Hospital, APHP, Paris, France. ^[3] CPDP, CHI Poissy Saint-Germain, Paris, France. ^[4] Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, Paris, France. ^[5] INSERM UMR1163, Genome Dynamics in the Immune System, Paris, France. ^[6] Paediatric Immunology, Hematology and Rheumatology Unit, Necker Enfants Malades University Hospital, APHP, Paris, France. ^[7] Departments of Genetics, Necker Enfants Malades University Hospital, APHP, Paris, France. ^[8] Pediatric Neurology, Necker Enfants Malades University Hospital, APHP, Paris, France. ^[9] INSERM U1000 and UMR 1163, Institut Imagine, Paris, France. ^[10] Plateforme Bioinformatique, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. ^[11]

关键词 autophagy EPG5 corpus callosum agenesis microcephaly migration disorder