Section: Loeys-Dietz syndrome > Genetics

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Loeys-Dietz syndrome is caused by heterozygous variants in genes of the TGF-beta
signalling pathway, most often TGFBR1 or TGFBR2.[1] Loeys et al. described it
in 2005 in families with arterial tortuosity and aortic aneurysms.[1] Variants in
SMAD3 and TGFB2 were later found to cause the same phenotype. [3]


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