Article

Collagen & aortopathy gene abnormalities in Ehlers Danlos Syndrome (EDS) & sporadic Thoracic Aortic Aneurysm & Dissection (TAAD)

2017-01-01

Abstract excerpt

Introduction: Ehlers Danlos Syndrome(EDS) and Thoracic Aortic Aneurysm & Dissection (TAAD) comprise rare Mendelian vascular phenotypes associated with significant premature morbidity and mortality. New sequencing technologies may allow the better characterisation of their genetic basis, thereby informing clinical management and identifying novel molecular pathways. Methods: A combined strategy of targeted high-thr...

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Literature Corpus work: cbcb78a4-f082-5e47-be9b-9c31b687655b
DOI: 10.25560/69791

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