Associated Papers
Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome.
van der Leest EC et al.
Clinical Genetics, 2025
40065510 (PubMed )
Supplement: CGE-108-134-s001.xlsx › Supplemental_Table_5
Early-onset Marfan syndrome with a novel missense mutation: A case report.
Soma K et al.
Journal of Cardiology Cases, 2023
Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.
Jensen SA et al.
Plos One, 2021
33735269 (PubMed )
Supplement: pone.0248532.s001.xlsx › S1_Table
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
Peng Q et al.
Bmc Pediatrics, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.
Chao SC et al.
Clinical Genetics, 2010
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