Structural highlights
Disease
FBLN4_HUMAN Autosomal recessive cutis laxa type 1;Lethal arteriopathy syndrome due to Fibulin-4 deficiency. The disease is caused by mutations affecting the gene represented in this entry.[1] [2] [3]
Function
FBLN4_HUMAN
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
- ↑ Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet. 2006 Jun;78(6):1075-80. Epub 2006 Apr 10. PMID:16685658 doi:http://dx.doi.org/S0002-9297(07)63929-9
- ↑ Dasouki M, Markova D, Garola R, Sasaki T, Charbonneau NL, Sakai LY, Chu ML. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. Am J Med Genet A. 2007 Nov 15;143A(22):2635-41. PMID:17937443 doi:http://dx.doi.org/10.1002/ajmg.a.31980
- ↑ Hoyer J, Kraus C, Hammersen G, Geppert JP, Rauch A. Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. Clin Genet. 2009 Sep;76(3):276-81. doi: 10.1111/j.1399-0004.2009.01204.x. Epub, 2009 Aug 3. PMID:19664000 doi:http://dx.doi.org/10.1111/j.1399-0004.2009.01204.x
