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Article

Loeys-Dietz Syndrome.

Advances in experimental medicine and biology - 1 Jan 2021

Velchev Joe D, Van Laer Lut, Luyckx Ilse, Dietz Harry, Loeys Bart

Abstract excerpt

Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is significant for aortic dissection at smaller aortic diameter and arterial aneurysms throughout the arterial tree. The genetic cause is heterogeneous and includes...

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Identifiers

PMID: 34807423
DOI: 10.1007/978-3-030-80614-9_11

Genes

SMAD2
SMAD3
TGFB2
TGFB3
TGFBR1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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