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

Abstract

Abstract 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.

Keywords

• chondroectodermal dysplasia
• Ellis‐van Creveld syndrome
• EVC2 gene
• polydactyly