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-Reference-Cited by-同舟云学术

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

Published:2014-11-26 Issue:2 Volume:167 Page:421-427
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Saari Jonathan¹,Lovell Mark A.²,Yu Hung-Chun³,Bellus Gary A.¹

Affiliation:

1. Department of Pediatrics; Children's Hospital Colorado; University of Colorado Denver Anschutz Medical Campus; Aurora Colorado

2. Department of Pathology; Children's Hospital Colorado; University of Colorado Denver Anschutz Medical Campus; Aurora Colorado

3. Department of Pediatrics; University of Colorado Denver Anschutz Medical Campus; Aurora Colorado

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36852/fullpdf

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