https://pubmed.ncbi.nlm.nih.gov/21784848/
Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease...
Mutations in fibrillin-1 give rise to Marfan syndrome (MFS) characterized by vascular, skeletal, and ocular abnormalities. Fibrillins form the backbone of...
neonatal marfan syndrome