Article

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.

2022-02-02

Abstract excerpt

Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have only been reported sporadically in post-mortem autopsies. We here report two families with segregating JAG1 variants that present with isolated aneurysmal disease, as well as t...

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Literature Corpus work: 47f6777c-50b9-569e-ba13-68739ec1b750
DOI: 10.22541/au.164383426.69108413/v1

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