Thoracic aortic aneurysm and dissection (TAAD) is a life-threatening disease with often unrecognized inherited forms. We sought to identify novel pathogenic variants associated with autosomal dominant inheritance of TAAD.

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

Dattilo, Vincenzo;
2021-01-01

Abstract

Thoracic aortic aneurysm and dissection (TAAD) is a life-threatening disease with often unrecognized inherited forms. We sought to identify novel pathogenic variants associated with autosomal dominant inheritance of TAAD.
2021
ADAMTSL6
THSD4
diagnosis
thoracic aortic aneurysm
ADAM Proteins
Animals
Exome
Fibrillin-1
Humans
Mice
Aneurysm, Dissecting
Aortic Aneurysm, Thoracic
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.12317/80130
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