Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene
Herein, we present a case with an intragenic deletion of the <i>EVC</i> gene and expand the clinical and genetic spectrum of Ellis-Van Creveld syndrome.
Authors
- Özkan Kaya (ORCID: https://orcid.org/0000-0002-9314-1827)
- Tuğba Daşar (ORCID: https://orcid.org/0000-0002-1493-4352)
- Abdülkerim Kolkıran
- Elifcan Taşdelen (ORCID: https://orcid.org/0000-0003-3917-9792)
Institutions
- Bilkent University (TR)
- Memorial Ankara Hospital (TR)
- Başkent University Hospital (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-10-24
- DOI
- https://doi.org/10.1159/000541665
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00