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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.
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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  Data: Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.
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  Data: <searchLink fieldCode="AU" term="%22Cortés-González+V%22">Cortés-González V</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rodriguez-Morales+M%22">Rodriguez-Morales M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ataliotis+P%22">Ataliotis P</searchLink>; School of Health and Medical Sciences, City St. George's University of London, London, SW17 0RE, UK.<br /><searchLink fieldCode="AU" term="%22Mayer+C%22">Mayer C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Plaisancié+J%22">Plaisancié J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chassaing+N%22">Chassaing N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; 3billion Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Rozet+JM%22">Rozet JM</searchLink>; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, Paris, 75015, France.<br /><searchLink fieldCode="AU" term="%22Cavodeassi+F%22">Cavodeassi F</searchLink>; School of Health and Medical Sciences, City St. George's University of London, London, SW17 0RE, UK. fcavodea@sgul.ac.uk.<br /><searchLink fieldCode="AU" term="%22Fares+Taie+L%22">Fares Taie L</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2024 Dec; Vol. 143 (12), pp. 1509-1521. <i>Date of Electronic Publication: </i>2024 Nov 06.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
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              Text: 2024 Dec
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