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Article

The Role of Genetic Variation in Phenotypic Variability in Loeys-Dietz Syndrome.

Human mutation - 1 Jan 2026

Nabi Hussein Abdul, Dreher Luke, Hartnett Jack, Crossley Ashley, El Ghandour Hussein, Osundiji Mayowa, El Masry Hicham, Ayoub Chadi, Shamoun Fadi E, Baudhuin Linnea M

Abstract excerpt

Background: Loeys-Dietz syndrome (LDS) is a heritable connective tissue disorder caused by pathogenic variants in genes of the transforming growth factor-β (TGF-β) signaling pathway. Although genotype-phenotype correlations have been suggested, comprehensive comparative data across LDS subtypes remain limited. Improved understanding of these correlations is essential to guide individualized surveillance and...

Read the complete abstract on PubMed

Topics

Humans
Loeys-Dietz Syndrome
Female
Smad3 Protein
Receptor, Transforming Growth Factor-beta Type I
Male

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Receptor, Transforming Growth Factor-beta Type II

Genetic Association Studies

Phenotype

Genetic Variation

Adult

Retrospective Studies

Middle Aged

Genotype

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 42707265
DOI: 10.1155/humu/2861205
PMCID: PMC13547592

Genes

TGFBR1
SMAD3
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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