An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family

Kim Summers, D Xu, J A West, J J McGill, A Galbraith, C M Whight, S L Brocque, M Nataatmadja, L K Kong, J Dondey, D Stark, M J West

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)66-9
Number of pages4
JournalClinical genetics
Volume65
Issue number1
DOIs
Publication statusPublished - 2004

Keywords

  • Adolescent
  • Adult
  • Aged
  • Aorta
  • Child
  • DNA Mutational Analysis
  • Dilatation, Pathologic
  • Exons
  • Female
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Immunohistochemistry
  • Male
  • Marfan Syndrome
  • Microfilament Proteins
  • Microsatellite Repeats
  • Middle Aged
  • Oceanic Ancestry Group
  • Pedigree
  • Point Mutation
  • Polymerase Chain Reaction

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