title: An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family.
authors.forename: K M
authors.initials: KM
authors.lastname: Summers
authors.forename: D
authors.initials: D
authors.lastname: Xu
authors.forename: J A
authors.initials: JA
authors.lastname: West
authors.forename: J J
authors.initials: JJ
authors.lastname: McGill
authors.forename: A
authors.initials: A
authors.lastname: Galbraith
authors.forename: C M
authors.initials: CM
authors.lastname: Whight
authors.forename: S L
authors.initials: SL
authors.lastname: Brocque
authors.forename: M
authors.initials: M
authors.lastname: Nataatmadja
authors.forename: L K
authors.initials: LK
authors.lastname: Kong
authors.forename: J
authors.initials: J
authors.lastname: Dondey
authors.forename: D
authors.initials: D
authors.lastname: Stark
authors.forename: M J
authors.initials: MJ
authors.lastname: West
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001011:Aorta / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D004108:Dilatation, Pathologic; D005091:Exons; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics* / Q000628:therapy; D008840:Microfilament Proteins / Q000235:genetics*; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines