EVC1
MIM.604831 4p16
EVC
EVC1 (or EVC) encodes a 992-amino acid protein, that is mutated in Ellis-van Creveld syndrome (MIM.225500) and in Weyers acrodental dysostosis (MIM.193530).
Pathology
germline mutations in
- Ellis-van Creveld disease (MIM.225500)
- Wyers acrodental dysostosis (MIM.193530)
See also
EVCs
References
Takamine, Y.; Krejci, P.; Mekikian, P. B.; Wilcox, W. R. : Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. (Letter) Am. J. Med. Genet. 130A: 96-97, 2004. PMID: 15368503