{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wilkinson NR"],"funding":["Imperial College London"],"pagination":["368-376"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11893879"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["33(3)"],"pubmed_abstract":["Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this. Patients were identified through the National Ehlers-Danlos Syndrome (EDS) Service London. We report on 18 events in childhood, recorded in 13 individuals. First events occurred at a median age of 11 years (IQR 0-13) and genetic testing was initiated as "],"journal":["European journal of human genetics : EJHG"],"pubmed_title":["Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood."],"pmcid":["PMC11893879"],"funding_grant_id":["P89680-1"],"pubmed_authors":["Cervi E","Ghali N","Flora H","Wagner B","Morris-Rosendahl D","von Klemperer K","Andrew T","Baker D","van Dijk FS","Wilkinson NR"],"additional_accession":[]},"is_claimable":false,"name":"Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.","description":"Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this. Patients were identified through the National Ehlers-Danlos Syndrome (EDS) Service London. We report on 18 events in childhood, recorded in 13 individuals. First events occurred at a median age of 11 years (IQR 0-13) and genetic testing was initiated as ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2026-06-02T00:01:02.433Z","creation":"2025-04-04T13:11:39.685Z"},"accession":"S-EPMC11893879","cross_references":{"pubmed":["39730916"],"doi":["10.1038/s41431-024-01773-x"]}}