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
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Title
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
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 167, Issue 2, Pages 421-427
Publisher
Wiley
Online
2014-11-27
DOI
10.1002/ajmg.a.36852
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