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Mol Cell Probes. 1994 Aug;8(4):325-7.

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

Author information

1
Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.

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.

PMID:
7870075
DOI:
10.1006/mcpr.1994.1045
[Indexed for MEDLINE]

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