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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.
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| 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 |