Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome

Patrick Booms, Jason Cisler, Kurt R. Mathews, Maurice Godfrey, Frank Tiecke, Ursula C. Kaufmann, Ulrich Vetter, Christian Hagemeier, Peter N. Robinson

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78 Scopus citations

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Medicine & Life Sciences