首页> Human genetics> Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.

导出 OA

翻译打印收藏纠错

第一作者： Vianney,Cortés-González

第一单位： Departamento de Genética, Asociación Para Evitar la Ceguera en México, Vicente García Torres No. 46 Barrio San Lucas, Coyoacán, Mexico City, C.P. 04030, Mexico.;Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico City, Mexico.

作者： Vianney,Cortés-González ^[1] ; Miguel,Rodriguez-Morales ^[1] ; Paris,Ataliotis ^[2] ; Claudine,Mayer ^[3] ; Julie,Plaisancié ^[4] ; Nicolas,Chassaing ^[4] ; Hane,Lee ^[5] ; Jean-Michel,Rozet ^[6] ; Florencia,Cavodeassi ^[7] ; Lucas,Fares Taie ^[8]

作者单位： Departamento de Genética, Asociación Para Evitar la Ceguera en México, Vicente García Torres No. 46 Barrio San Lucas, Coyoacán, Mexico City, C.P. 04030, Mexico.;Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico City, Mexico. ^[1] School of Health and Medical Sciences, City St. George's University of London, London, SW17 0RE, UK. ^[2] Complex Systems and Translational Bioinformatics (CSTB), ICube Laboratory, UMR7357, University of Strasbourg, 1 rue Eugène Boeckel, Strasbourg, 67000, France.;Faculté des Sciences, Université Paris Cité, UFR Sciences du Vivant, Paris, 75013, France. ^[3] Laboratoire de Référence (LBMR) des Anomalies Malformatives de l'oeil, Institut Fédératif de Biologie (IFB), CHU Toulouse, Toulouse, France.;Centre de Référence des Affections Rares en Génétique Ophtalmologique, CARGO, site constitutif, CHU Toulouse, Toulouse, France. ^[4] 3billion Inc., Seoul, South Korea. ^[5] Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, Paris, 75015, France. ^[6] School of Health and Medical Sciences, City St. George's University of London, London, SW17 0RE, UK. fcavodea@sgul.ac.uk. ^[7] Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, Paris, 75015, France. lucas.fares-taie@inserm.fr. ^[8]