Associated Papers
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Drackley A et al.
Genome Medicine, 2024
39741318 (PubMed )
Supplement: 13073_2024_1423_MOESM2_ESM.xlsx › Sheet1
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
Tjeldhorn L et al.
Bmc Medical Genetics, 2015
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
Rand-Hendriksen S et al.
American Journal of Medical Genetics. Part A, 2007
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