An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family.
Summers
K M
KM
Xu
D
D
West
J A
JA
McGill
J J
JJ
Galbraith
A
A
Whight
C M
CM
Brocque
S L
SL
Nataatmadja
M
M
Kong
L K
LK
Dondey
J
J
Stark
D
D
West
M J
MJ
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
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines