[From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome].
Ellis-van Creveld syndrome is an autosomal recessive disorder characterised by short stature with short limbs, postaxial polydactyly and congenital cardiac defects. The syndrome can be caused by mutations in the EVC gene or the EVC2 gene. The genes are located close to each other in a head-to-head configuration on chromosome 4p16. Clinical diagnosis can be confirmed by DNA analysis, which is currently offered by two laboratories in Italy.
van Hagen
J M
JM
VU Medisch Centrum, afd. Klinische Genetica en Antropogenetica, Postbus 7057, 1007 MB Amsterdam. a.vanhagen@vumc.nl
Baart
J A
JA
Gille
J J P
JJ
D004247:DNA / Q000032:analysis; D004392:Dwarfism / Q000235:genetics; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation; D014071:Tooth Abnormalities / Q000235:genetics
D004247:DNA