Associated Papers
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
A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.
Yao Z et al.
Bmc Genomics, 2007
Molecular pathology of Shprintzen-Goldberg syndrome.
Kosaki K et al.
American Journal of Medical Genetics. Part A, 2006
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.
Schrijver I et al.
American Journal of Human Genetics, 1999
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