Associated Papers
Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene.
Motonaga T et al.
International Heart Journal, 2022
Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.
Jensen SA et al.
Plos One, 2021
33735269 (PubMed )
Supplement: pone.0248532.s001.xlsx › S1_Table
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
Peng Q et al.
Bmc Pediatrics, 2016
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
Stheneur C et al.
Pediatric Research, 2011
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
Faivre L et al.
European Journal of Human Genetics : Ejhg, 2009
Primary trabeculodysgenesis in association with neonatal Marfan syndrome.
Whitelaw CM et al.
American Journal of Medical Genetics. Part A, 2004
Select a paper to view details