Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1].
Arslan-Kirchner
Mine
M
Institute of Human Genetics, Hannover Medical School, Hannover, Germany. arslan.mine@mh-hannover.de
Arbustini
Eloisa
E
Boileau
Catherine
C
Child
Anne
A
Collod-Beroud
Gwenaelle
G
De Paepe
Anne
A
Epplen
Jörg
J
Jondeau
Guillaume
G
Loeys
Bart
B
Faivre
Laurence
L
D002851:Chromatography, High Pressure Liquid; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics*; D010641:Phenotype; D012680:Sensitivity and Specificity; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines