Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygousfibulin-4gene mutation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01204.x/fullpdf
Reference15 articles.
1. Elastin production and degradation in cutis laxa acquisita;Fornieri;J Invest Dermatol,1994
2. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa;Dasouki;Am J Med Genet A,2007
3. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome;Hucthagowder;Am J Hum Genet,2006
4. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa;Loeys;Hum Mol Genet,2002
5. Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype;Elahi;J Invest Dermatol,2006
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