Article
Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.
The American journal of case reports - 12 Dec 2017
Ibarra-Ramirez Marisol, Campos-Acevedo Luis Daniel, Lugo-Trampe Jose, Martínez-Garza Laura E, Martinez-Glez Víctor, Valencia-Benitez María, Lapunzina Pablo, Ruiz-Peréz Víctor
Abstract excerpt
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. In addition, 60% of cases present congenital heart defects. Ellis-van Creveld syndrome is predominantly caused by mutations in the EVC or EVC2 (4p16) genes, with only a few cases caused by...
Topics
- Adolescent
- Child
- Codon, Nonsense
- Ellis-Van Creveld Syndrome
- Exons
- Female
- Homozygote
- Humans
- Infant, Newborn
- Male
- Membrane Proteins
- Mexico
- Phenotype