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This page is a summary of: Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis geneWDPCPin a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas, American Journal of Medical Genetics Part A, November 2014, Wiley,
DOI: 10.1002/ajmg.a.36852.
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