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Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population

PURPOSE: Posterior Polymorphous Dystrophy (PPCD) is a genetically heterogeneous corneal dystrophy, with linkage to three different chromosomal loci, with several genes in these loci being implicated. The role of both VSX1 and COL8A2 in PPCD remains controversial but recent work suggests that mutatio...

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Detalles Bibliográficos
Autores principales: Vincent, Andrea L., Niederer, Rachael L., Richards, Amanda, Karolyi, Betina, Patel, Dipika V., McGhee, Charles N.J.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2788618/
https://www.ncbi.nlm.nih.gov/pubmed/19997581