title: FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly.
authors.forename: P A
authors.initials: PA
authors.lastname: Gupta
authors.forename: D D
authors.initials: DD
authors.lastname: Wallis
authors.forename: T O
authors.initials: TO
authors.lastname: Chin
authors.forename: H
authors.initials: H
authors.lastname: Northrup
authors.forename: V T
authors.initials: VT
authors.lastname: Tran-Fadulu
authors.forename: J A
authors.initials: JA
authors.lastname: Towbin
authors.forename: D M
authors.initials: DM
authors.lastname: Milewicz
mesh_terms: 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
chemical_list: C000605723:FBN2 protein, human; D000071840:Fibrillin-2; D000071837:Fibrillins; D008840:Microfilament Proteins