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

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

Bibliographic Details
Main Authors: Özden Öztürk, Haydar Bağış, Semih Bolu, Muhammer Özgür Çevik
Format: Article
Language:English
Published: Wiley 2021-04-01
Series:Clinical Case Reports
Subjects:
chondroectodermal dysplasia
Ellis‐van Creveld syndrome
EVC2 gene
polydactyly
Online Access:https://doi.org/10.1002/ccr3.3919

Internet

https://doi.org/10.1002/ccr3.3919

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