Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients
This study reveals the frequency of disease-related variants, including seven novel ones, in genes leading to MED1-5 and 7 phenotypes, and expands the spectrum of genetic and clinical phenotypes.
Authors
- Timur Yıldırım (ORCID: https://orcid.org/0000-0003-0291-7632)
- Dilek Uludağ Alkaya (ORCID: https://orcid.org/0000-0002-0495-6152)
- Nilay Güneş (ORCID: https://orcid.org/0000-0002-7787-3630)
- Ayşe Kalyoncu Uçar (ORCID: https://orcid.org/0000-0001-8433-1883)
- Ali Şeker
- Tuncay Centel
- Beyhan Tüysüz (ORCID: https://orcid.org/0000-0002-9620-5021)
- Hasan Emir Taner
Institutions
- Turkish Society of Hematology (TR)
- Istanbul University-Cerrahpaşa (TR)
- Istanbul Technical University (TR)
- Istanbul University (TR)
Publication Details
- Journal
- Genes
- Published
- 2026-04-15
- DOI
- https://doi.org/10.3390/genes17040463
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Istanbul Üniversitesi-Cerrahpasa