Article

Loss of function variants in<i>ADAMTS6</i>: Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)

2025-05-06

Abstract excerpt

<h4>ABSTRACT</h4> Marfan syndrome (MS), Loeys-Dietz syndrome (LDS), and heritable thoracic aortic aneurysms and dissections (hTAAD) are autosomal dominant connective tissue disorders with overlapping clinical features and underlying molecular heterogeneity. While most cases are explained by pathogenic variants in genes involved in extracellular matrix structure or TGFβ signaling, a large proportion of hTAAD cases...

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Literature Corpus work: f30c2e23-de32-5996-ad5a-3c47ddff7e11
DOI: 10.1101/2025.05.02.25326573

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