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Article

Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.

BMC pediatrics - 28 Oct 2023

Kemezyte Aurelija, Gegieckiene Ruta, Burnyte Birute

Abstract excerpt

BACKGROUND: Marfan syndrome is a genetic connective tissue disorder affecting skeletal, ocular, and cardiovascular organ systems. Previous research found that pathogenic variants clustered in exons 24-32 of fibrillin-1 (FBN1) gene result in more severe clinical phenotypes. Furthermore, genotype-phenotype correlation studies suggested that more severe cardiovascular phenotypes were related to variants held...

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Identifiers

PMID: 37891508
DOI: 10.1186/s12887-023-04357-8
PMCID: PMC10612290

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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