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- W2055101039 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." @default.
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- W2055101039 date "1994-08-01" @default.
- W2055101039 modified "2023-10-17" @default.
- W2055101039 title "A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly" @default.
- W2055101039 doi "https://doi.org/10.1006/mcpr.1994.1045" @default.
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