Ellis-van Creveld syndrome due to a novel EVC2 variant in a patient from Turkey
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Abstract
Here we report a Turkish child with Ellis-van Creveld syndrome whose presentation was short strature, hypodontia, narrow thorax, dysplastic nails, cardiac abnormality and polydactyly. Genetic analysis revealed novel homozygous mutation in the EVC2 gene (c.3533_3546del). Further research is needed to elucidate the pathophysiological course
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- europepmc
- last seen: 2026-05-19T01:45:01.086888+00:00