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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Bibliografiska uppgifter
Huvudupphovsmän: Cao, Wenping, Ge, Hongyan, Cui, Xiaobo, Zhang, Lu, Bai, Jing, Fu, Songbin, Liu, Ping
Materialtyp: Artigo
Språk:Inglês
Publicerad: Molecular Vision 2009
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2622714/
https://ncbi.nlm.nih.gov/pubmed/19145249
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