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. 1994 Aug;8(4):325-7.
doi: 10.1006/mcpr.1994.1045.

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

C Hayward  1 , M E Porteous, D J Brock
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A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

C Hayward et al. Mol Cell Probes. 1994 Aug.

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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