Subject Areas on Research
- A novel fibrotic disorder associated with increased dermal fibroblast proliferation and downregulation of genes of the microfibrillar network.
- Accelerated Marfan syndrome model recapitulates established signaling pathways.
- Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
- Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.
- Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.