title: Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
authors.forename: G
authors.initials: G
authors.lastname: Collod-Béroud
authors.forename: M
authors.initials: M
authors.lastname: Lackmy-Port-Lys
authors.forename: G
authors.initials: G
authors.lastname: Jondeau
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
authors.forename: Y
authors.initials: Y
authors.lastname: Maingourd
authors.forename: M
authors.initials: M
authors.lastname: Coulon
authors.forename: M
authors.initials: M
authors.lastname: Guillotel
authors.forename: C
authors.initials: C
authors.lastname: Junien
authors.forename: C
authors.initials: C
authors.lastname: Boileau
mesh_terms: D000293:Adolescent; D018376:Cardiovascular Abnormalities / Q000235:genetics*; D002648:Child; D005091:Exons / Q000235:genetics; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005602:France; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009030:Mosaicism / Q000235:genetics*; D009139:Musculoskeletal Abnormalities / Q000235:genetics*; D009679:Nuclear Family; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines