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

dc.contributor.author	Öztürk, Özden
dc.contributor.author	Bağış, Haydar
dc.contributor.author	Bolu, Semih
dc.contributor.author	Çevik, Muhammer Özgür
dc.date.accessioned	2025-12-15T11:24:50Z
dc.date.available	2025-12-15T11:24:50Z
dc.date.issued	2021
dc.identifier.issn	2050-0904
dc.identifier.uri	http://dspace.adiyaman.edu.tr:8080/xmlui/handle/20.500.12414/6989
dc.description.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.	tr
dc.language.iso	en	tr
dc.publisher	WILEY	tr
dc.subject	chondroectodermal dysplasia	tr
dc.subject	Ellis-van Creveld syndrome	tr
dc.subject	EVC2 gene	tr
dc.subject	polydactyly	tr
dc.title	Ellis-van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey	tr
dc.type	Article	tr
dc.contributor.authorID	0000-0001-8558-7901	tr
dc.contributor.authorID	0000-0002-1140-8058	tr
dc.contributor.department	Adiyaman Univ, Dept Med Genet, Sch Med	tr
dc.contributor.department	Adiyaman Univ, Dept Pediat, Div Pediat Endocrinol, Sch Med	tr
dc.identifier.endpage	1976	tr
dc.identifier.issue	4	tr
dc.identifier.startpage	1973	tr
dc.identifier.volume	9	tr
dc.source.title	CLINICAL CASE REPORTS	tr