Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey
2021
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.
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
15
References
0
Citations
NaN
KQI