Open AccessEllis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey
Author(s) -
Öztürk Özden,
Bağış Haydar,
Bolu Semih,
Çevik Muhammer Özgür
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3919
Subject(s) - medicine , girl , gene , genetics , dermatology , biology
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.