Article
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2022
Thomas Davis C, Moorthy Janani Dakshina, Prabhakar Vaishnavi, Ajayakumar Ahana, Pitchumani Priyanka Kodaganallur
Abstract excerpt
Ellis-van Creveld syndrome (EvC) is an autosomal recessive genetic disorder involving pathogenic variants of EVC and EVC2 genes and classified as a ciliopathy. The syndrome is caused by mutations in the EVC gene on chromosome 4p16, and EVC2 gene, located close to the EVC gene, in a head-to-head configuration. Regardless of the affliction of EVC or EVC2, the clinical features of Ellis-van Creveld syndrome are...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.