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Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations

PURPOSE: To characterize the clinical phenotype, histopathological features, and molecular genetic basis of an Avellino corneal dystrophy (ACD) in a Chinese family. METHODS: A complete ophthalmologic examination was performed in 21 individuals (6 affected and 15 unaffected) of the four-generation fa...

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Detalles Bibliográficos
Autores principales:	Cao, Wenping, Ge, Hongyan, Cui, Xiaobo, Zhang, Lu, Bai, Jing, Fu, Songbin, Liu, Ping
Formato:	Texto
Lenguaje:	English
Publicado:	Molecular Vision 2009
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2622714/ https://www.ncbi.nlm.nih.gov/pubmed/19145249

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