Ellis-van Creveld syndrome novel pathogenic variant in the <i>EVC2</i> gene a patient from Turkey.

Öztürk, Özden; Bagis, Haydar; Bolu, Semih; Çevik, Muhammer Özgür

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

Öztürk, Özden; Bagis, Haydar; Bolu, Semih; Çevik, Muhammer Özgür.

Afiliação

Öztürk Ö; Department of Medical Genetics Medical School of Adiyaman University Adiyaman Turkey.
Bagis H; Department of Medical Genetics Medical School of Adiyaman University Adiyaman Turkey.
Bolu S; Division of Pediatric Endocrinology Department of Pediatrics Medical School of Adiyaman University Adiyaman Turkey.
Çevik MÖ; Department of Medical Genetics Medical School of Adiyaman University Adiyaman Turkey.

Clin Case Rep ; 9(4): 1973-1976, 2021 Apr.

Article em En | MEDLINE | ID: mdl-33936625

ABSTRACT

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.

Palavras-chave

EVC2 gene; Ellisvan Creveld syndrome; chondroectodermal dysplasia; polydactyly

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Case Rep Ano de publicação: 2021 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Case Rep Ano de publicação: 2021 Tipo de documento: Article