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Marfan syndrome: No evidence for heterogeneity in different populations, and more precise mapping of the gene

Marfan syndrome is a dominantly inherited connective tissue disorder with manifestations in the cardiovascular, ocular, and skeletal systems. The diagnosis is hampered by both high variability in the phenotypic expression and late manifestation of symptoms. The cause of Marfan syndrome remains unkno...

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Autors principals: Kainulainen, Katariina, Steinmann, Beat, Collins, Francis, Dietz, Harry C., Francomano, Clair A., Child, Anne, Kilpatrick, Michael W., Brock, David J. H., Keston, Marion, Pyeritz, Reed E., Peltonen, Leena
Format: Artigo
Idioma:Inglês
Publicat: 1991
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683142/
https://ncbi.nlm.nih.gov/pubmed/1882844
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