title: Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
authors.affiliation: Department of Genetics, Brook Army Medical Center, Fort Sam Houston, TX, USA.
authors.forename: J
authors.initials: J
authors.lastname: Hogue
authors.forename: C
authors.initials: C
authors.lastname: Lee
authors.forename: A
authors.initials: A
authors.lastname: Jelin
authors.forename: M N
authors.initials: MN
authors.lastname: Strecker
authors.forename: V A
authors.initials: VA
authors.lastname: Cox
authors.forename: A M
authors.initials: AM
authors.lastname: Slavotinek
mesh_terms: D000293:Adolescent; D000483:Alleles; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006720:Homozygote; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D020125:Mutation, Missense; D010641:Phenotype; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines