Associated Papers
Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity.
Khan A et al.
American Journal of Medical Genetics. Part A, 2026
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.
Li J et al.
Science China. Life Sciences, 2019
Marfan syndrome with a homozygous FBN1 splicing mutation.
Lu XX et al.
American Journal of Medical Genetics. Part A, 2017
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
Arnaud P et al.
Journal of Medical Genetics, 2017
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
Sakai LY et al.
Gene, 2016
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
Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
Hogue J et al.
Clinical Genetics, 2013
Compound-heterozygous Marfan syndrome.
Van Dijk FS et al.
European Journal of Medical Genetics, 0
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