A Novel Heterozygous TGFBI c.1613C>A Pathogenic Variant is Associated With Lattice Corneal Dystrophy in a Chinese Family.

Fu, Mengjun; Duan, Shan; Zhang, Xiaobo; Wang, Jiahao; Wang, Sheng; Chi, Zai-Long

Fu, Mengjun; Duan, Shan; Zhang, Xiaobo; Wang, Jiahao; Wang, Sheng; Chi, Zai-Long.

Afiliación

Fu M; From the State Key Laboratory of Ophthalmology (M.F., X.Z., Z-L.C.), Optometry and Visual Science, Eye Hospital, Wenzhou Medical University, Wenzhou, China; National Clinical Research Center for Ocular Diseases (M.F., X.Z., Z-L.C.), Eye Hospital, Wenzhou Medical University, Wenzhou, China; Weifang E
Duan S; Laboratory of Molecular Medicine (S.D.), Institute of Maternal and Child Medicine, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, China.
Zhang X; From the State Key Laboratory of Ophthalmology (M.F., X.Z., Z-L.C.), Optometry and Visual Science, Eye Hospital, Wenzhou Medical University, Wenzhou, China; National Clinical Research Center for Ocular Diseases (M.F., X.Z., Z-L.C.), Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Wang J; Weifang Eye Institute (M.F., J.W., S.W.), National Key Clinical Specialty, Weifang Eye Hospital, Zhengda Guangming Eye Group, Weifang, China.
Wang S; Weifang Eye Institute (M.F., J.W., S.W.), National Key Clinical Specialty, Weifang Eye Hospital, Zhengda Guangming Eye Group, Weifang, China.
Chi ZL; From the State Key Laboratory of Ophthalmology (M.F., X.Z., Z-L.C.), Optometry and Visual Science, Eye Hospital, Wenzhou Medical University, Wenzhou, China; National Clinical Research Center for Ocular Diseases (M.F., X.Z., Z-L.C.), Eye Hospital, Wenzhou Medical University, Wenzhou, China. Electroni

Am J Ophthalmol ; 256: 138-145, 2023 12.

Article en En | MEDLINE | ID: mdl-37567434

Asunto(s)

Distrofias Hereditarias de la Córnea; Pueblos del Este de Asia; Humanos; Estudios de Casos y Controles; Córnea/patología; Distrofias Hereditarias de la Córnea/diagnóstico; Distrofias Hereditarias de la Córnea/genética; Análisis Mutacional de ADN; Proteínas de la Matriz Extracelular/genética; Mutación; Linaje; Factor de Crecimiento Transformador beta/genética

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Distrofias Hereditarias de la Córnea / Pueblos del Este de Asia Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Ophthalmol Año: 2023 Tipo del documento: Article

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