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

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.

Detalles Bibliográficos
Autores principales: Öztürk, Özden, Bağış, Haydar, Bolu, Semih, Çevik, Muhammer Özgür
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077313/
https://www.ncbi.nlm.nih.gov/pubmed/33936625
http://dx.doi.org/10.1002/ccr3.3919

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077313/
https://www.ncbi.nlm.nih.gov/pubmed/33936625
http://dx.doi.org/10.1002/ccr3.3919

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