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De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.

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第一作者： Francesca,Cristofoli

第一单位： Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.

作者： Francesca,Cristofoli ^[1] ; Tonya,Moss ^[2] ; Hannah W,Moore ^[3] ; Koen,Devriendt ^[1] ; Heather,Flanagan-Steet ^[2] ; Melanie,May ^[2] ; Julie,Jones ^[2] ; Filip,Roelens ^[4] ; Carmen,Fons ^[5] ; Anna,Fernandez ^[5] ; Loreto,Martorell ^[6] ; Angelo,Selicorni ^[7] ; Silvia,Maitz ^[8] ; Giuseppina,Vitiello ^[9] ; Gerd,Van der Hoeven ^[10] ; Steven A,Skinner ^[3] ; Mathieu,Bollen ^[10] ; Joris R,Vermeesch ^[1] ; Richard,Steet ^[11] ; Hilde,Van Esch ^[12]

作者单位： Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium. ^[1] JC Self Research Institute, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA. ^[2] Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA. ^[3] Pediatric Neurology, Department of Pediatrics, AZ Delta, Brugsesteenweg 90, 8800 Roeselare, Belgium. ^[4] Pediatric Neurology Department, Sant Joan de Déu Hospital, Passeig de Sant Joan de Déu 2, 08950 Barcelona, Spain. ^[5] Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Sant Joan de Déu Hospital, Passeig de Sant Joan de Déu 2, 08950 Barcelona, Spain. ^[6] Pediatric Department, ASST Lariana, Sant'Anna Hospital, Via Ravona 20, 22042 Como, Italy. ^[7] Clinical Pediatric Genetics Unit, MBBM Foundation, S. Gerardo Hospital, Via Pergolesi 33, 20900 Monza, Italy. ^[8] Department of Translational Medicine and Molecular Medicine and Medical Biotechnologies, Federico II University, via Pansini 5, 80131 Naples, Italy. ^[9] Laboratory of Biosignalling & Therapeutics, Department of Cellular and Molecular Medicine, KU Leuven, Herestraat 49, 3000 Leuven, Belgium. ^[10] JC Self Research Institute, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA. Electronic address: rsteet@ggc.org. ^[11] Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium. Electronic address: hilde.vanesch@uzleuven.be. ^[12]

关键词 LMNB1 intellectual disability lamin A/C lamin B1 microcephaly mitotic spindle nuclear envelope nuclear lamina