Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.
Takamine
Yuji
Y
Krejci
Pavel
P
Mekikian
Pertchoui B
PB
Wilcox
William R
WR
D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D004613:Ellis-Van Creveld Syndrome; D005091:Exons; D006801:Humans; D016350:Leucine Zippers; D008565:Membrane Proteins; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D012779:Short Rib-Polydactyly Syndrome / Q000235:genetics*
C406058:EVC protein, human; D008565:Membrane Proteins; D011506:Proteins