Article

Assessing the clinical significance of a novel rare variant in Loeys-Dietz Syndrome by combining AI-driven modelling and cell biology

2026-03-31

Abstract excerpt

Loeys–Dietz syndrome (LDS) is an autosomal dominant connective-tissue disorder caused by genetic variants in TGF-β pathway genes, most often TGFBR1/2 . While pathogenic TGFBR2 mutations usually cluster in the kinase domain and disrupt SMAD signaling, the real challenge in accurate genetic testing is separating the variants that truly affect TGFBR2 function from the rare benign alterations that only look suspici...

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Literature Corpus work: 123b3c25-55eb-5dd2-ae5f-df4cfaafbdee
DOI: 10.64898/2026.03.30.26349510

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