首页> Journal of human genetics> Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.

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第一作者： Michal,Gafner

第一单位： Department of Pediatrics B, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.;Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

作者： Michal,Gafner ^[1] ; Marina,Michelson ^[2] ; Emanuela,Argilli ^[3] ; Keren,Yosovich ^[4] ; Elliott H,Sherr ^[3] ; Kendall C,Parks ^[3] ; Eleina M,England ^[5] ; Ronen,Hady-Cohen ^[6] ; Zvi,Leibovitz ^[7] ; Dorit,Lev ^[2] ; Yael,Michaeli-Yosef ^[6] ; Tally,Lerman-Sagie ^[6] ; Lubov,Blumkin ^[8]

作者单位： Department of Pediatrics B, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.;Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. ^[1] Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.;Magen Center for Rare Diseases, Wolfson Medical Center, Holon, Israel.;The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel. ^[2] Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.;Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA. ^[3] Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.;Magen Center for Rare Diseases, Wolfson Medical Center, Holon, Israel.;Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel. ^[4] Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ^[5] Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.;Magen Center for Rare Diseases, Wolfson Medical Center, Holon, Israel.;Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel. ^[6] Fetal Neurology Clinic, Wolfson Medical Center, Holon, Israel.;Obstetrics-Gynecology Ultrasound Unit, Rappaport Faculty of Medicine, Bnai-Zion Medical Center, The Technion, Haifa, Israel. ^[7] Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. luba.blumkin@gmail.com.;Magen Center for Rare Diseases, Wolfson Medical Center, Holon, Israel. luba.blumkin@gmail.com.;Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel. luba.blumkin@gmail.com.;Pediatric Movement Disorders Service, Wolfson Medical Center, Holon, Israel. luba.blumkin@gmail.com. ^[8]