Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene

Luitgard M. Graul-Neumann*, Tina Kienitz, Peter N. Robinson, Sevjidmaa Baasanjav, Benjamin Karow, Gabriele Gillessen-Kaesbach, Raimund Fahsold, Hartmut Schmidt, Katrin Hoffmann, Eberhard Passarge

*Corresponding author for this work
34 Citations (Scopus)

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Medicine & Life Sciences