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

Özden Öztürk; Haydar Bağış; Semih Bolu; Muhammer Özgür Çevik

doi:10.1002/ccr3.3919

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

Clin Case Rep. 2021 Feb 14;9(4):1973-1976. doi: 10.1002/ccr3.3919. eCollection 2021 Apr.

Authors

Özden Öztürk¹, Haydar Bağış¹, Semih Bolu², Muhammer Özgür Çevik¹

Affiliations

¹ Department of Medical Genetics Medical School of Adiyaman University Adiyaman Turkey.
² Division of Pediatric Endocrinology Department of Pediatrics Medical School of Adiyaman University Adiyaman Turkey.

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: EVC2 gene; Ellis‐van Creveld syndrome; chondroectodermal dysplasia; polydactyly.

Publication types

Case Reports