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References

These sources were used to develop the Genetics Home Reference gene summary on the EFEMP2 gene.

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. PubMed citation
Entrez Gene
Giltay R, Timpl R, Kostka G. Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4. Matrix Biol. 1999 Oct;18(5):469-80. PubMed citation
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. PubMed citation
Kielty CM. Elastic fibres in health and disease. Expert Rev Mol Med. 2006 Aug 8;8(19):1-23. Review. PubMed citation
Kobayashi N, Kostka G, Garbe JH, Keene DR, Bächinger HP, Hanisch FG, Markova D, Tsuda T, Timpl R, Chu ML, Sasaki T. A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization. J Biol Chem. 2007 Apr 20;282(16):11805-16. Epub 2007 Feb 26. PubMed citation
Timpl R, Sasaki T, Kostka G, Chu ML. Fibulins: a versatile family of extracellular matrix proteins. Nat Rev Mol Cell Biol. 2003 Jun;4(6):479-89. Review. PubMed citation

Reviewed: June 2009

Published: May 20, 2013