A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.
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DOI: 10.1002/mgg3.2183
Abstract: BACKGROUND Ellis-van Creveld (EvC) syndrome, caused by variants in EVC, is a rare genetic skeletal dysplasia. Its clinical phenotype is highly diverse. EvC syndrome is rarely reported in prenatal stages because its presentation overlaps with… read more here.
Keywords: van creveld; ellis van; syndrome; fetus ... See more keywords