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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

9 Oct 2023

Abstract excerpt

BACKGROUND: The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos syndrome (hEDS) remains unknown. METHODS: Whole exome sequencing (WES) was undertaken on 174 EDS patients recruited from a national diagnostic service for complex EDS and a specialist clinic for hEDS. Patients had...

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PMID: 37813462
DOI: 10.1136/jmg-2023-109329

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