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  • Title: A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
    Author: Hayward C, Porteous ME, Brock DJ.
    Journal: Mol Cell Probes; 1994 Aug; 8(4):325-7. PubMed ID: 7870075.
    Abstract:
    Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's syndrome, ectopia lentis and neonatal Marfan's syndrome. We have identified a novel missense mutation in exon 28 of the FBN1 gene (R1170H) which is responsible for an atypical marfanoid phenotype characterised by dolichostenomelia and arachnodactyly.
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