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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Bibliografiska uppgifter
I publikationen:Eur J Med Genet
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2009
Ämnen:
Article
Länkar: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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