Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

Abstract

The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were found in literature. We report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis… (More)
DOI: 10.1186/1755-8166-5-5

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