Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes

@article{Umair2017EllisvanCS,
  title={Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes},
  author={Muhammad Umair and Heide Seidel and Ishtiaq Ahmed and Asmat Ullah and Tobias B. Haack and Bader Alhaddad and Abid Jan and Afzal Rafique and Tim Matthias Strom and Farooq Ahmad and Thomas Meitinger and Wasim Ahmad},
  journal={Journal of Genetics},
  year={2017},
  volume={96},
  pages={1005-1014}
}
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 families, A and B, with Pakistani and Republic of Kosovo origin, respectively. They… CONTINUE READING