FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly.
Gupta
P A
PA
Wallis
D D
DD
Chin
T O
TO
Northrup
H
H
Tran-Fadulu
V T
VT
Towbin
J A
JA
Milewicz
D M
DM
D002648:Child; D018450:Disease Progression; D005260:Female; D000071840:Fibrillin-2; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D008840:Microfilament Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D012326:RNA Splicing
C000605723:FBN2 protein, human; D000071840:Fibrillin-2; D000071837:Fibrillins; D008840:Microfilament Proteins