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Ellis‐van Creveld syndrome 10‐year‐old Turkish girl and her parents were first degree cousins. A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the  EVC2  gene in patient. She had no peg‐shaped teeth, multiple frenula, and limb shortness.

Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey