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

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Bibliographic Details
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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ISSN:1552-4833
DOI:10.1002/ajmg.a.63716