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Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identif...
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Public Library of Science
2011
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| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3131273/ https://ncbi.nlm.nih.gov/pubmed/21750680 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002114 |
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