id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_rf5wultyjbbhdbuye7fvyuy3mm	Maria Valencia	Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families	2015.0	4	.pdf	application/pdf	2002	198	65	Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families Ellis-van Creveld Syndrome: Mutations Uncovered in Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in the EVC2 gene, c.2653C>T (p.(Arg885*)) and c.2012 2015del (p.(Leu671*)) in exons Ellis-van Creveld (EvC) syndrome, also known as chondroectodermal and mesoectodermal dysplasia, was first described In this paper, we report EvC syndrome in two unrelated Figure 3: Clinical photos of patient from Family 1 depicting short upper and lower limbs and polydactyly. Figure 4: Clinical photos of patient from Family 2 showing conical shaped teeth and polydactyly. "Ellis-van Creveld syndrome: a rare clinical entity," Journal of Medical Journal Case Reports, vol. "Ellis-van Creveld syndrome: report of 15 cases in an inbred "Ellis-van Creveld syndrome: a report of two cases," Pediatric Ellis-van Creveld syndrome in a Chinese family," American	./cache/work_rf5wultyjbbhdbuye7fvyuy3mm.pdf	./txt/work_rf5wultyjbbhdbuye7fvyuy3mm.txt