Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.
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| Description | scientific article published on 26 November 2014 |
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author: Hung-Chun Yu Gary Bellus |
| Publication date | November 26, 2014 |
| Language | English |
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