Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene.
Barnett
Christopher P
CP
Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Wilson
Gregory J
GJ
Chiasson
David A
DA
Gross
Gil J
GJ
Hinek
Aleksander
A
Hawkins
Cynthia
C
Chitayat
David
D
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
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines