Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

A study on the genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome (EDS) identified new diagnostic variants in genes associated with EDS and related syndromes. The research also uncovered potential genetic factors and rare variants in genes linked to EDS symptomatology, shedding light on the genetic landscape of the syndrome. The study conducted deep phenotyping and whole exome sequencing on a large cohort, revealing novel variants in genes associated with Mendelian disorders and suggesting the clinical utility of sequencing in diagnosing rare disorders. While no significant genome-wide associations were found, potential candidate loci were identified for further investigation.

- Identified new diagnostic variants in genes associated with EDS and related syndromes

- Uncovered potential genetic factors and rare variants linked to EDS symptomatology

- Conducted deep phenotyping and whole exome sequencing on a large cohort

- Found novel variants in genes associated with Mendelian disorders

- Suggested the clinical utility of sequencing in diagnosing rare disorders

- No significant genome-wide associations detected, but potential candidate loci identified