Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene

PURPOSE: To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family. METHODS: Six affected family members were examined clinically including visual acuity, color cornea photography, applanation tonography, and fundoscopy. Genomic D...

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Detalles Bibliográficos
Autores principales: Romero, Pablo, Vogel, Marlene, Diaz, Jose-Manuel, Romero, Maria-Patricia, Herrera, Luisa
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2373796/
https://www.ncbi.nlm.nih.gov/pubmed/18470323

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2373796/
https://www.ncbi.nlm.nih.gov/pubmed/18470323

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