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TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.

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Title: TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.
Authors: Chacon-Camacho OF; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Laboratorio 5 Edificio A-4, Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de, Mexico City, Mexico., Ordaz-Robles T; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Genetics, Fundación Hospital Nuestra Señora de la Luz, Mexico City, Mexico., Cid-García MA; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Hofmann-Blancas ME; National Registry of Congenital Glaucoma, Mexico City, Mexico., Ledesma-Gil J; Glaucoma Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., García-Huerta MM; Head of Glaucoma Department, Asociación para Evitar la Ceguera en México, I.A.P, Mexico City, Mexico., Prado-Larrea C; Glaucoma Department, Asociación para Evitar la Ceguera en México, I.A.P, Mexico City, Mexico., Cortés-González V; Genetics Department, Asociación para Evitar la Ceguera en México, Mexico City, Mexico., Lozano-Garza RI; Ophthalmology Department, Hospital Infantil de México, 'Federico Gómez', Mexico City, Mexico., García-Vega D; Department of Ophthalmology, Hospital de Pediatría Centro Médico Nacional Siglo XXI, IMSS, Mexico City, Mexico., Kim J; 3billion Inc, Seoul, South Korea., Khang R; 3billion Inc, Seoul, South Korea., Lee E; 3billion Inc, Seoul, South Korea., Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Biochemistry Department, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.; Rare Diseases Diagnostic Unit, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63716. Date of Electronic Publication: 2024 Jun 07.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.
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  Data: <searchLink fieldCode="AU" term="%22Chacon-Camacho+OF%22">Chacon-Camacho OF</searchLink>; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Laboratorio 5 Edificio A-4, Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Ordaz-Robles+T%22">Ordaz-Robles T</searchLink>; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Genetics, Fundación Hospital Nuestra Señora de la Luz, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Cid-García+MA%22">Cid-García MA</searchLink>; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Hofmann-Blancas+ME%22">Hofmann-Blancas ME</searchLink>; National Registry of Congenital Glaucoma, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Ledesma-Gil+J%22">Ledesma-Gil J</searchLink>; Glaucoma Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22García-Huerta+MM%22">García-Huerta MM</searchLink>; Head of Glaucoma Department, Asociación para Evitar la Ceguera en México, I.A.P, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Prado-Larrea+C%22">Prado-Larrea C</searchLink>; Glaucoma Department, Asociación para Evitar la Ceguera en México, I.A.P, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Cortés-González+V%22">Cortés-González V</searchLink>; Genetics Department, Asociación para Evitar la Ceguera en México, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Lozano-Garza+RI%22">Lozano-Garza RI</searchLink>; Ophthalmology Department, Hospital Infantil de México, 'Federico Gómez', Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22García-Vega+D%22">García-Vega D</searchLink>; Department of Ophthalmology, Hospital de Pediatría Centro Médico Nacional Siglo XXI, IMSS, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; 3billion Inc, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Khang+R%22">Khang R</searchLink>; 3billion Inc, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Lee+E%22">Lee E</searchLink>; 3billion Inc, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Zenteno+JC%22">Zenteno JC</searchLink>; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Biochemistry Department, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.; Rare Diseases Diagnostic Unit, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63716. <i>Date of Electronic Publication: </i>2024 Jun 07.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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