HIGHLIGHTS
- What: The authors aim to report on the (combination of) clinical features of the monogenic EDS types through text and photographs to aid clinical diagnosis as despite the significant progress in genetic testing possibilities a thorough clinical assessment which includes medical history family history and physical examination remains important in the diagnostic process. Many mention that being cautious is the main reason for this along with a general reduction in physically boisterous activities. The HEDGE study aims to arrange whole genome sequencing in 1000 adult individuals fulfilling the 2017 criteria for hEDS but it is considered that . . .
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