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  • Title: A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.
    Author: Kochilas L, Gundogan F, Atalay M, Bliss JM, Vatta M, Pena LS, Abuelo D.
    Journal: J Perinatol; 2008 Apr; 28(4):303-5. PubMed ID: 18379569.
    Abstract:
    Marfan syndrome in the neonatal age represents a severe early and commonly lethal manifestation of Marfan syndrome, which is caused by mutations in the gene encoding fibrillin-1 (FBN1). Here, we report a newborn with severe Marfan syndrome and a novel mutation involving cysteine substitution within one of the epidermal growth factor-like domains of FBN1.
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