Article

Ellis-van Creveld syndrome due to a novel EVC2 variant in a patient from Turkey

2020-12-19

Abstract excerpt

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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Literature Corpus work: badf060c-1f0d-572d-8aee-065f17e27969
DOI: 10.22541/au.160839989.99464782/v1

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