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Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

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第一作者： Annie,Laquerriere

第一单位： Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Normandie University, Rouen University Hospital, NeoVasc Team, UNIROUEN, Inserm U1245, Rouen, France.

作者： Annie,Laquerriere ^[1] ; Camille,Maillard ^[2] ; Mara,Cavallin ^[3] ; Françoise,Chapon ^[4] ; Florent,Marguet ^[1] ; Arnaud,Molin ^[5] ; Sabine,Sigaudy ^[6] ; Marie,Blouet ^[7] ; Guillaume,Benoist ^[8] ; Carla,Fernandez ^[9] ; Karine,Poirier ^[10] ; Jamel,Chelly ^[11] ; Sophie,Thomas ^[2] ; Nadia,Bahi-Buisson ^[3]

作者单位： Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Normandie University, Rouen University Hospital, NeoVasc Team, UNIROUEN, Inserm U1245, Rouen, France. ^[1] Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris and INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris France. ^[2] Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris and INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris France.;Pediatric Neurology, Necker Enfants Malades University Paris Hospital, APHP, Paris, France. ^[3] Pathology Laboratory, Caen University Hospital, Caen France. ^[4] Service de Génétique Pôle Biologie et Pharmacie Rouen University Hôpital, France. ^[5] Clinical Genetics, Hôpital de La Timone, APHM, Marseille University Hospital, Marseille France. ^[6] Department of Radiology, Caen University Hospital, Caen France. ^[7] Department of Obstetrics and Gynaecology, Caen University Hospital, Caen France. ^[8] Department of Pathology and Neuropathology, La Timone University Hospital, Marseille, France. ^[9] Inserm, U1016, Institut Cochin, Paris, France.;CNRS, UMR8104, Paris, France.;Denis Diderot School of Medicine, Sorbonne-Paris Cité University, Paris, France. ^[10] IGBMC, INSERM U964, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.;Pôle de Biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. ^[11]

关键词 Brain pathology DYNC1H1 gene mutations Microcephaly Neuritic outgrowth Path finding Polymicrogyria