首页> European journal of medical genetics> Rare ACTG1 variants in fetal microlissencephaly.

Rare ACTG1 variants in fetal microlissencephaly.

导出 LinkOut

翻译打印收藏纠错

第一作者： Karine,Poirier

第一单位： Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.

作者： Karine,Poirier ^[1] ; Jelena,Martinovic ^[2] ; Annie,Laquerrière ^[3] ; Mara,Cavallin ^[4] ; Catherine,Fallet-Bianco ^[5] ; Isabelle,Desguerre ^[6] ; Stephanie,Valence ^[7] ; Jocelyne,Grande-Goburghun ^[8] ; Christine,Francannet ^[9] ; Jean-François,Deleuze ^[10] ; Anne,Boland ^[10] ; Jamel,Chelly ^[11] ; Nadia,Bahi-Buisson ^[12]

作者单位： Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France. ^[1] Unit of Fetal Pathology, APHP, Antoine Beclere University Hospital, Clamart, France. ^[2] Pathology Laboratory, Rouen University Hospital, France; NeoVasc Region-Inserm Team ERI28, Laboratory of Microvascular Endothelium and Neonate Brain Lesions, Institute of Research for Innovation in Biomedicine, University of Rouen, Rouen, France. ^[3] Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Institut Imagine-INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France. ^[4] Université de Montréal, CHU Sainte Justine, Montréal, QC, Canada. ^[5] Pediatric Neurology, Necker Enfants Malades University Hospital, Paris, France. ^[6] Pediatric Neurology, Trousseau University Hospital, Paris, France. ^[7] Pathology Laboratory, Centre hospitalier de Tulle, France. ^[8] Department of Clinical Genetics, Clermont Ferrand University Hospital, France. ^[9] Centre National de Génotypage, Evry, France. ^[10] Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Genetics and et Pathophysiology of Neurodeveloppemental and Epileptogenic Disorders, IGBMC, Illkirch, France. ^[11] Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Institut Imagine-INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France. Electronic address: nadia.bahi-buisson@nck.aphp.fr. ^[12]

关键词 Baraitser–Winter syndrome Microlissencephaly