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

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. Ellis‐van Creveld syndrome 10‐year‐old Turkish gi...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Clinical case reports 2021-04, Vol.9 (4), p.1973-1976
Hauptverfasser: Öztürk, Özden, Bağış, Haydar, Bolu, Semih, Çevik, Muhammer Özgür
Format: Artikel
Sprache:eng
Schlagworte:
Age
Case Report
Case Reports
chondroectodermal dysplasia
Congenital diseases
Disease
Ellis‐van Creveld syndrome
EVC2 gene
Fingers & toes
Genes
Genomics
Hands
Heart
Laboratories
Learning disabilities
Mutation
Parents & parenting
Patients
polydactyly
Pregnancy
Teeth
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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. 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
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.3919