MASS phenotype

[1]. H C Dietz, et al. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics. 1993 Aug;17(2):468-75. [Content Brief]

[2]. P N Robinson, et al. The molecular genetics of Marfan syndrome and related disorders. J Med Genet. 2006 Oct;43(10):769-87. [Content Brief]

[3]. P N Robinson, et al. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet. 2000 Jan;37(1):9-25. [Content Brief]