Article

Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz Syndrome patients provides insights into genotype-phenotype relations

2023-12-12

Abstract excerpt

<h4>Introduction</h4> Pathogenic (P) and likely pathogenic (LP) variants in the SMAD3 gene cause Loeys-Dietz syndrome type 3 (LDS3), also known as aneurysms-osteoarthritis syndrome (AOS). The phenotype of LDS3 is highly variable and characterized by arterial aneurysms, dissections and tortuosity throughout the vascular system combined with skeletal, cutaneous and facial features. <h4>Objectives</h4> Investigat...

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Literature Corpus work: 8c3e2996-5dfb-51b3-8073-2b5ed9fd3d27
DOI: 10.1101/2023.12.11.571192

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