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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.
Am J Med Genet A. 2010 Nov;152A(11):2749-55. doi: 10.1002/ajmg.a.33690.
Am J Med Genet A. 2010.
PMID: 20979188
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.
Goldblatt J, Hyatt J, Edwards C, Walpole I.
Goldblatt J, et al.
Am J Med Genet A. 2011 Apr;155A(4):717-20. doi: 10.1002/ajmg.a.33906. Epub 2011 Mar 15.
Am J Med Genet A. 2011.
PMID: 21594992
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