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.

SUBMITTER: Ozturk O 

PROVIDER: S-EPMC8077313 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature