2015
DOI: 10.1167/iovs.15-18074
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Potential Modifying Loci Associated With Primary Lens Luxation, Pedal Hyperkeratosis, and Ocular Phenotypes in Miniature Bull Terriers

Abstract: Two loci with potentially enhancing effects on the ADAMTS17 mutation were associated with PLL in Australian MBTs. Association of the ADAMTS17 mutation with possible pedal skeletal abnormalities in MBTs supports PLL in this breed and Weill-Marchesani syndrome-like disease in humans as being homologous diseases.

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