Article
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
Journal of genetics - 1 Dec 2017
Umair Muhammad, Seidel Heide, Ahmed Ishtiaq, Ullah Asmat, Haack Tobias B, Alhaddad Bader, Jan Abid, Rafique Afzal, Strom Tim M, Ahmad Farooq, Meitinger Thomas, Ahmad Wasim
Abstract excerpt
Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet. EVC/EVC2 located in head-to-head arrangement on chromosome 4p16 are the causative genes for EvC syndrome. In the study, we present two...
Topics
- Adolescent
- Child
- Child, Preschool
- Ellis-Van Creveld Syndrome
- Female
- Fingers
- Genetic Association Studies
- Genetic Predisposition to Disease
- Humans
- Intercellular Signaling Peptides and Proteins
- Male
- Membrane Proteins
- Mutation