Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.
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| Title: | Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans. |
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| Authors: | Cortés-González V; 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., Rodriguez-Morales M; 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., Ataliotis P; School of Health and Medical Sciences, City St. George's University of London, London, SW17 0RE, UK., Mayer C; 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., Plaisancié J; 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., Chassaing N; 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., Lee H; 3billion Inc., Seoul, South Korea., Rozet JM; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, Paris, 75015, France., Cavodeassi F; School of Health and Medical Sciences, City St. George's University of London, London, SW17 0RE, UK. fcavodea@sgul.ac.uk., Fares Taie L; 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. |
| Source: | Human genetics [Hum Genet] 2024 Dec; Vol. 143 (12), pp. 1509-1521. Date of Electronic Publication: 2024 Nov 06. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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