Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation
| Data(s) |
2013
|
|---|---|
| Resumo |
Mutations in ZEB1 have been reported in posterior polymorphous corneal dystrophy (PPCD3; MIM #609141) and Fuchs' endothelial corneal dystrophy (FECD6; MIM #613270). Although PPCD and keratoconus are clinically and pathologically distinct, PPCD has been associated with keratoconus, suggesting a common genetic basis. The purpose of our study was to perform mutational screening of the ZEB1 gene in patients affected with keratoconus or PPCD. |
| Identificador | |
| Idioma(s) |
eng |
| Direitos |
info:eu-repo/semantics/restrictedAccess |
| Fonte |
Lechner , J , Dash , D P , Muszynska , D , Hosseini , M , Segev , F , George , S , Frazer , D G , Moore , J E , Kaye , S B , Young , T , Simpson , D A , Churchill , A J , Héon , E & Willoughby , C E 2013 , ' Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation ' Investigative ophthalmology & visual science , vol 54 , no. 5 , pp. 3215-23 . DOI: 10.1167/iovs.13-11781 |
| Palavras-Chave | #/dk/atira/pure/subjectarea/asjc/2700/2731 #Ophthalmology #/dk/atira/pure/subjectarea/asjc/2800/2809 #Sensory Systems #/dk/atira/pure/subjectarea/asjc/2800/2804 #Cellular and Molecular Neuroscience |
| Tipo |
article |
