The molecular genetics of Marfan syndrome and related disorders.

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...

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Hlavní autoři: 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
Médium: Journal article
Jazyk:English
Vydáno: 2006

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