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期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Jonathan Saari Mark A. Lovell Hung‐Chun Yu Gary A. Bellus

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

Abstract:

Keywords:	orofaciodigital syndrome ciliopathy WDPCP polysyndactyly coarctation tongue hamartomas