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Article

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant.

American journal of medical genetics. Part A - 1 Oct 2025

Villeneuve-Cloutier Noémie, Boswell-Patterson Christie A, Bronicki Lucas, Vincent Krista M, Wilk Kalin, Yu Andrea C, Graham Gail E, Richer Julie

Abstract excerpt

Loeys-Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features. While LDS has significant clinical overlap with other heritable connective tissue disorders such as Marfan...

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Identifiers

PMID: 40464278
DOI: 10.1002/ajmg.a.64124

Genes

SMAD3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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