Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype

Takenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, Kosaki K. Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. Am J Med Genet A. 2013 Dec;161A(12):3057-62.