A Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2
Protein modeling using AlphaFold3 revealed disruption of a critical disulfide bridge within the seventh epidermal growth factor-like repeat, likely affecting protein stability. In this study, we aimed to further characterize the clinical, radiological, and molecular features of this disorder with protein modeling.
Authors
- Yasemin Kendir Demirkol (ORCID: https://orcid.org/0000-0001-8016-5224)
- Günseli Bayram Akçapınar (ORCID: https://orcid.org/0000-0002-6296-7415)
- Yunus Emre Dilek
- Heves Kırmızıbekmez (ORCID: https://orcid.org/0000-0002-8663-3452)
- Arzu Selamioğlu (ORCID: https://orcid.org/0000-0001-7264-038X)
- Burak Sezgi̇n (ORCID: https://orcid.org/0000-0003-2938-5816)
- Burcu Yeter (ORCID: https://orcid.org/0000-0002-6255-1057)
- Hande Kaymakçalan Çelebiler
Institutions
- Yale University (US)
- Ümraniye Eğitim ve Araştırma Hastanesi (TR)
- Bağcılar Eğitim ve Araştırma Hastanesi (TR)
- Istanbul University (TR)
- Galatasaray University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-03-28
- DOI
- https://doi.org/10.1159/000545570
- Primary Topic
- Hedgehog Signaling Pathway Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00