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...
Main Authors: | Michelle J Kim, Ricardo F Frausto, George O D Rosenwasser, Tina Bui, Derek J Le, Edwin M Stone, Anthony J Aldave |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2014-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC3997350?pdf=render |
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