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Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
Authors: Graul-Neumann, L. M.; Kienitz, T.; Robinson, P. N.; Baasanjav, S.; Karow, B.; Gillessen-Kaesbach, G.; Fahsold, R.; Schmidt, H.; Hoffmann, K.; Passarge, E.
Date of Publication (YYYY-MM-DD): 2010-11-01
Title of Journal: American Journal of Medical Genetics Part A
Volume: 152A
Issue / Number: 11
Start Page: 2749
End Page: 2755
Document Type: Article
ID: 539679.0
 
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