Fibulin-4: A novel gene for an autosomal recessive cutis laxa syndrome
V. Hucthagowder, N. Sausgruber, K.H. Kim, B. Angle, L.Y. Marmorstein, Z. Urban Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome Am J Hum Genet 78 2006 1075 1080
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa
M. Dasouki, D. Markova, R. Garola, T. Sasaki, N.L. Charbonneau, L.Y. Sakai, M.L. Chu Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa Am J Med Genet A 143 2007 2635 2641
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation
J. Hoyer, C. Kraus, G. Hammersen, J.P. Geppert, A. Rauch Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation Clin Genet 76 2009 276 281
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type i caused by fibulin-4 deficiency
M. Renard, T. Holm, R. Veith, B.L. Callewaert, L.C. Adès, O. Baspinar, A. Pickart, M. Dasouki, J. Hoyer, A. Rauch, P. Trapane, M.G. Earing, P.J. Coucke, L.Y. Sakai, H.C. Dietz, A.M. De Paepe, B.L. Loeys Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency Eur J Hum Genet 18 2010 895 901