The molecular genetics of Marfan syndrome and related disorders.
Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene for fibrillin-1 (FBN1). The leading cause of premature death in untreated indiv...
Huvudupphovsmän: | Robinson, P, Arteaga-Solis, E, Baldock, C, Collod-Béroud, G, Booms, P, De Paepe, A, Dietz, H, Guo, G, Handford, P, Judge, D, Kielty, C, Loeys, B, Milewicz, D, Ney, A, Ramirez, F, Reinhardt, D, Tiedemann, K, Whiteman, P, Godfrey, M |
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Materialtyp: | Journal article |
Språk: | English |
Publicerad: |
2006
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