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Posterior Amorphous Corneal Dystrophy Is Associated with a Deletion of Small Leucine-rich Proteoglycans on Chromosome 12

Posterior amorphous corneal dystrophy (PACD) is a rare, autosomal dominant disorder affecting the cornea and iris. Next-generation sequencing of the previously identified PACD linkage interval on chromosome 12q21.33 failed to yield a pathogenic mutation. However, array-based copy number analysis and...

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Detalles Bibliográficos
Autores principales:	Kim, Michelle J., Frausto, Ricardo F., Rosenwasser, George O. D., Bui, Tina, Le, Derek J., Stone, Edwin M., Aldave, Anthony J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3997350/ https://www.ncbi.nlm.nih.gov/pubmed/24759697 http://dx.doi.org/10.1371/journal.pone.0095037

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