Non-genetic diagnostic investigations in monogenic ehlers-danlos syndromes

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 . . .
  

   

  

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