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

BACKGROUND: 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. RESULTS: We report here on...

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Detalles Bibliográficos
Autores principales:	Colovati, Mileny ES, da Silva, Luciana RJ, Takeno, Sylvia S, Mancini, Tatiane I, N Dutra, Ana R, Guilherme, Roberta S, de Mello, Cláudia B, Melaragno, Maria I, A Perez, Ana B
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339390/ https://www.ncbi.nlm.nih.gov/pubmed/22260333 http://dx.doi.org/10.1186/1755-8166-5-5

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