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University of Adelaide
The Marfan syndrome and related phenotypes : delineation of various phenotypes and analysis of the fibrillin gene (FBN1) for putative mutations
Abstract
dc:description.abstractA clinical and molecular study of patients with unequivocal Marfan sydnrome, or with an undiagnosed connective tissue disorder with some features in common with Marfan syndrome. Presents the phenotype of six Marfan patients with an FBN1 mutation, patients with Shprintzen-Goldberg syndrome or furlong syndrome, and two children with congenital aneurysms. Details the molecular screening of 44% of the FBN1 gene coding sequence for putative mutations.
Author and committee
dc:creator, dc:contributor.*- Author dc:creator
-
- Adés, Lesley Carole
Rights
- Language dc:language.iso
- en
Identifiers
dc:identifier.*- Handle dc:identifier.uri
- http://hdl.handle.net/2440/38233
- OAI identifier oai:identifier
- oai:digital.library.adelaide.edu.au:2440/38233