Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome
Abstract 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, genot...
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BMC,
2023-10-01T00:00:00Z.
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