Paucity of Skeletal Manifestations in Hispanic Families with FBN1 mutations

Marfan syndrome (MFS) is an autosomal dominant condition with pleiotropic manifestations involving the skeletal, ocular, and cardiovascular systems. The diagnosis is based primarily on clinical involvement of these and other systems, referred to as the Ghent criteria. We have identified three Hispan...

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Detalhes bibliográficos
Publicado no:Eur J Med Genet
Main Authors: Villamizar, Carlos, Regalado, Ellen S., Fadulu, Van Tran, Hasham, Sumera N., Gupta, Prateek, Willing, Marcia C., Kuang, Shao-Qing, Guo, Dongchuan, Muilenburg, Ann, Yee, Richard W., Fan, Yuxin, Towbin, Jeffrey, Coselli, Joseph S., LeMaire, Scott A., Milewicz, Dianna M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4354948/
https://ncbi.nlm.nih.gov/pubmed/19941982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2009.11.001
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