Clinical Case Reports (Apr 2021)
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.
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