Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions - Da Silva, Jorge Diogo; Soares, Ana Rita; Fortuna, Ana Maria; Tkachenko, Nataliya (Genetics in Medicine Open, 2023)
Keywords: CRMP1; Ellis-van Creveld; EVC; EVC2; Skeletal ciliopathy; Systematic Review; EVC2; CRMP1; EVC; Skeletal ciliopathy; Ellis-van Creveld