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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3339390/
https://ncbi.nlm.nih.gov/pubmed/22260333
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-5-5
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