HIGHLIGHTS
- What: The authors explore whether in these scenarios non-genetic investigations, which prior to NGS were quite commonly used to support the clinical diagnosis of monogenic EDS types, remain diagnostically valuable.
- Who: Ehlers-Danlos syndromes et al. from the iants of unknown significanceAdditionally, in some cases no genetic alteration is identified despite a strong clinical suspicion on a specific monogenic EDS type. To address these challenges in selected cases, functional and/or structural analyses that were used frequently in the past or have been recently developed can provide additional evidence that may confirm a clinical . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.