id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_icwneaekzzdu3o2uopxu3oyyom	Marisol Ibarra-Ramirez	Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome	2017.0	5	.pdf	application/pdf	3006	352	68	Background: Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. Case Report: Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome. All patients exhibited multiple features including hypodontia, dysplastic teeth, extra frenula, mild short stature, distal limb shortening, postaxial polydactyly of hands and feet, nail dystrophy, allows the clinical variability and spectrum of manifestations present in individuals with Ellis-van Creveld syndrome even if they carry the same homozygous mutation in a same family. The large majority of Ellis-van Creveld syndrome cases are associated with mutations in either EVC or EVC2 which are adjacent genes located on chromosome 4p16 [6–8]. characterization of Ellis-van Creveld syndrome patients from Clinical Features of patients with Ellis-van Creveld syndrome. Clinical Features of patients with Ellis-van Creveld syndrome.	./cache/work_icwneaekzzdu3o2uopxu3oyyom.pdf	./txt/work_icwneaekzzdu3o2uopxu3oyyom.txt