| 1 | FBN1, MFLS
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| Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
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| Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, Robinson PN, Symoens S, Van Maldergem L, Debray FG.
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| Eur J Med Genet 57(5):230-4. doi: 10.1016/j.ejmg.2014.02.012. Epub 2014 Mar 6.
2014
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| 2 | FBN1, MFLS
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| Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
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| Takenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, Kosaki K.
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| Am J Med Genet A 161A(12):3057-62. doi: 10.1002/ajmg.a.36157. Epub 2013 Aug 16.
2013
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| 3 | FBN1, MFLS
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| Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.
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| Goldblatt J, Hyatt J, Edwards C, Walpole I.
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| Am J Med Genet A 155A(4):717-20. doi: 10.1002/ajmg.a.33906. Epub 2011 Mar 15.
2011
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| 4 | FBN1, MFLS
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| Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
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| Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E.
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| Am J Med Genet A 152A(11):2749-55. doi: 10.1002/ajmg.a.33690.
2010
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