id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_4bl45cqyjjctrbsygtz2kz2v44	Victor L. Ruiz-Perez	Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands	2009.0	11	.pdf	application/pdf	7870	891	67	Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands Ellis –van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. have been identified in patients with Weyers acrodental dysostosis, which are clustered in the last coding exon of bodies of primary cilia and analysis of an Ellis –van Creveld mouse model, which includes the limb shortening and tooth abnormalities of EvC patients, has demonstrated Hedgehog signaling defects in the absence of Evc. The loss We conclude that the phenotypic abnormalities in EvC and Weyers syndrome result � 2009 Wiley-Liss, Inc. KEY WORDS: Ellis –van Creveld syndrome; Weyers acrodental dysostosis; EVC; EVC2; hedgehog identified in EvC patients shortly thereafter [Ruiz-Perez et al., 2003; Galdzicka with the mutations found in each exon in Ellis– van Creveld patients shown above. EVC2 EXON22 MUTATIONS Mutations Identified in EVC2 in Weyers Patients	./cache/work_4bl45cqyjjctrbsygtz2kz2v44.pdf	./txt/work_4bl45cqyjjctrbsygtz2kz2v44.txt