Publications by authors named "Doruk Toydemir"
Article Synopsis
- Telangiectases and arteriovenous malformations (AVMs) are key features of Hereditary Hemorrhagic Telangiectasia (HHT), linked to genetic mutations in specific HHT-related genes.
- Researchers analyzed DNA from various tissue samples from individuals with HHT to understand the genetic mechanisms behind AVM formation and found somatic second-hit mutations contributing to these lesions.
- This study is the first to demonstrate that both nasal telangiectasias and solid organ AVMs in HHT are associated with low-level somatic biallelic second-hit mutations, highlighting the complexity of HHT's genetic landscape.*
