title: Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene.
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Christopher P
authors.initials: CP
authors.lastname: Barnett
authors.forename: Gregory J
authors.initials: GJ
authors.lastname: Wilson
authors.forename: David A
authors.initials: DA
authors.lastname: Chiasson
authors.forename: Gil J
authors.initials: GJ
authors.lastname: Gross
authors.forename: Aleksander
authors.initials: A
authors.lastname: Hinek
authors.forename: Cynthia
authors.initials: C
authors.lastname: Hawkins
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
mesh_terms: D001344:Autopsy; D002490:Central Nervous System / Q000002:abnormalities*; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D007223:Infant; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines