{"symbol":"EVC2","synonyms":["WAD","LBN"],"name":"Ellis van Creveld syndrome 2","description":"This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]","ncbiEntrezGeneId":132884,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/132884","proteins":[{"symbol":"LBN_HUMAN","href":"/api/1.0/protein/LBN_HUMAN"}],"hgncRootFamilies":[]}