Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient
By presenting the first Turkish case of a novel missense variant with a CUL3-related NEDAUS phenotype, this study contributes to the expansion of the genotypic and phenotypic spectrum of the disease.
Authors
- Kerem Teralı (ORCID: https://orcid.org/0000-0002-9964-6383)
- Ali Cansu (ORCID: https://orcid.org/0000-0002-1930-6312)
- Pınar Özkan Kart (ORCID: https://orcid.org/0000-0001-5726-737X)
- M. Yılmaz (ORCID: https://orcid.org/0000-0001-9422-1725)
- Yavuzhan Colak
- Ayberk Turkyilmaz
Institutions
- Cyprus International University (CY)
- Karadeniz Technical University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-09-26
- DOI
- https://doi.org/10.1159/000540923
- Primary Topic
- Ubiquitin and proteasome pathways
- Type
- article
- Field-Weighted Citation Impact
- 0.00