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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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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Authors: Krawitz, P. M.; Schweiger, M. R.; Rödelsperger, C.; Marcelis, C.; Kölsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Köhler, S.; Jager, M.; Grünhagen, J.; de Condor, B. J.; Doelken, S.; Brunner, H. G.; Meinecke, P.; Passarge, E.; Thompson, M. D.; Cole, D. E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P. N.
Date of Publication (YYYY-MM-DD): 2010-08-29
Title of Journal: Nature Genetics
Volume: 42
Issue / Number: 10
Start Page: 827
End Page: 829
Document Type: Article
ID: 539693.0
 
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Entries: 1-2  
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