Clustering of mutations associated with mild Marfan-like phenotypes in the 3? region ofFBN1 suggests a potential genotype-phenotype correlation

This publication has 31 references indexed in Scilit:

• Novel exon skipping mutation in the fibrillin‐1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome
  Clinical Genetics, 1999
• Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial marfan syndrome phenotype
  Human Mutation, 1998
• Marfan Database (third edition): new mutations and new routines for the software
  Nucleic Acids Research, 1998
• A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS)
  Human Mutation, 1998
• Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
  Human Mutation, 1997
• Marfan syndrome.
  Journal of Medical Genetics, 1996
• Revised diagnostic criteria for the Marfan syndrome
  American Journal of Medical Genetics, 1996
• A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly
  Molecular and Cellular Probes, 1994
• Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome
  Genomics, 1993
• International nosology of heritable disorders of connective tissue, Berlin, 1986
  American Journal of Medical Genetics, 1988