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
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