2023 Non-accidental injury investigations in patients w/ subsequently confirmed rare types of EDS- скачать в хорошем качестве

2023 Non-accidental injury investigations in patients w/ subsequently confirmed rare types of EDS-

Genetically Defined EDS: Strategies & Solutions for Unmet Needs Hybrid Meeting, August 30-31, 2023 This presentation discusses non-accidental injury investigations in instances where a subsequent diagnosis of a rare type of EDS was made. It highlights the overlap in clinical features that may be present in these cases, and the types of EDS in which these investigations have occurred. Niamh Wilkinson is a research assistant with the National Ehlers-Danlos Service based in London. With an interest in monogenic rare disease, she has undertaken research in Duchenne muscular dystrophy and, most recently, rare monogenic forms of Ehlers-Danlos syndrome (EDS).