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Article

Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.

Journal of dental research - 1 Jul 2025

Duverger O, Wang S K, Liu Q N, Wang Y, Martin D, Baena V, Syed Z A, Mendoza F, Nguyen T T, Frischmeyer-Guerrerio P A, Jani P H, Lee J S

Abstract excerpt

Loeys-Dietz syndrome (LDS1-6) is caused by mutations along the transforming growth factor-β (TGF-β) signaling pathway and features aortic aneurysms and craniofacial dysmorphology. Mutations that cause LDS can be found in the genes encoding transforming growth factor-β (TGF-β) ligands (TGFB2 and TGFB3), receptors (TGFBR1 and TGFBR2), and signal transducers (SMAD2 and SMAD3). Variable enamel anomalies are seen in...

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Source

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Identifiers

PMID: 40261094
DOI: 10.1177/00220345251326094
PMCID: PMC12319649

Genes

TGFBR2
SMAD2
SMAD3
TGFB2
TGFB3
TGFBR1

Provenance

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

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