Marfan syndrome
Definition:
References:
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[1]. Luitgard M Graul-Neumann, et al. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. Am J Med Genet A. 2010 Nov;152A(11):2749-55. [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]
[4]. P N Robinson, et al. The molecular pathogenesis of the Marfan syndrome. Cell Mol Life Sci. 2001 Oct;58(11):1698-707. [Content Brief]
[5]. Peter N Robinson, et al. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat. 2002 Sep;20(3):153-61. [Content Brief]
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