An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI

PURPOSE: To characterize the molecular defects in the TGFBI gene in a Chinese family with an unusual phenotype of Reis-Bücklers corneal dystrophy (RBCD). METHODS: Three generations of the family with RBCD were enrolled in the present study. In addition to ophthalmologic examinations, polymerase chai...

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Detalles Bibliográficos
Autores principales: Li, Dandan, Qi, Yanhua, Wang, Li, Lin, Hui, Zhou, Nan, Zhao, Liming
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2467519/
https://www.ncbi.nlm.nih.gov/pubmed/18636123

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2467519/
https://www.ncbi.nlm.nih.gov/pubmed/18636123

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