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A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum

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Figure

Fig. 1 Echocardiograph showing aortic root dilatation at the sinuses of Valsalva (line in-between two asterisks) and the sequencing result showing theheterozygous missense mutation c.3331 T > C in the patient (arrow)
Fig. 2 Different distributions of neonatal and classic or incomplete Marfan syndrome-associated mutations among FBN1 exons based on the UMD-FBN1mutations database

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