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

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-phen...

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Detalles Bibliográficos
Autores principales: Kemezyte, Aurelija, Gegieckiene, Ruta, Burnyte, Birute
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10612290/
https://www.ncbi.nlm.nih.gov/pubmed/37891508
http://dx.doi.org/10.1186/s12887-023-04357-8

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