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Li, V. ELN Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5327 (accessed on 25 September 2026).
Li V. ELN Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5327. Accessed September 25, 2026.
Li, Vivi. "ELN Gene" Encyclopedia, https://encyclopedia.pub/entry/5327 (accessed September 25, 2026).
Li, V. (2020, December 24). ELN Gene. In Encyclopedia. https://encyclopedia.pub/entry/5327
Li, Vivi. "ELN Gene." Encyclopedia. Web. 24 December, 2020.
ELN Gene
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Elastin

genes

References

  1. Brooke BS, Bayes-Genis A, Li DY. New insights into elastin and vasculardisease. Trends Cardiovasc Med. 2003 Jul;13(5):176-81. Review.
  2. Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E, DiasC, Albino A, Wachi H, Sato F, Mecham RP, Loeys B, Coucke PJ, De Paepe A, Urban Z.New insights into the pathogenesis of autosomal-dominant cutis laxa with reportof five ELN mutations. Hum Mutat. 2011 Apr;32(4):445-55. doi: 10.1002/humu.21462.
  3. Graul-Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C. Highly variablecutis laxa resulting from a dominant splicing mutation of the elastin gene. Am J Med Genet A. 2008 Apr 15;146A(8):977-83. doi: 10.1002/ajmg.a.32242.
  4. Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, RauchA, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M. Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet. 2000 Dec;8(12):955-63.
  5. Milewicz DM, Urbán Z, Boyd C. Genetic disorders of the elastic fiber system.Matrix Biol. 2000 Nov;19(6):471-80. Review.
  6. Morris CA, Mervis CB, Paciorkowski AP, Abdul-Rahman O, Dugan SL, Rope AF,Bader P, Hendon LG, Velleman SL, Klein-Tasman BP, Osborne LR. 7q11.23 Duplicationsyndrome: Physical characteristics and natural history. Am J Med Genet A. 2015Dec;167A(12):2916-35. doi: 10.1002/ajmg.a.37340.
  7. Morris CA, Mervis CB. Williams syndrome and related disorders. Annu RevGenomics Hum Genet. 2000;1:461-84. Review.
  8. Morris CA. Williams Syndrome. 1999 Apr 9 [updated 2017 Mar 23]. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1249/
  9. Park S, Seo EJ, Yoo HW, Kim Y. Novel mutations in the human elastin gene (ELN)causing isolated supravalvular aortic stenosis. Int J Mol Med. 2006Aug;18(2):329-32.
  10. Parrott A, James J, Goldenberg P, Hinton RB, Miller E, Shikany A, AylsworthAS, Kaiser-Rogers K, Ferns SJ, Lalani SR, Ware SM. Aortopathy in the 7q11.23microduplication syndrome. Am J Med Genet A. 2015 Feb;167A(2):363-70. doi:10.1002/ajmg.a.36859.
  11. Rodriguez-Revenga L, Badenas C, Carrió A, Milà M. Elastin mutation screeningin a group of patients affected by vascular abnormalities. Pediatr Cardiol. 2005 Nov-Dec;26(6):827-31.
  12. Rodriguez-Revenga L, Iranzo P, Badenas C, Puig S, Carrió A, Milà M. A novelelastin gene mutation resulting in an autosomal dominant form of cutis laxa. ArchDermatol. 2004 Sep;140(9):1135-9. Review.
  13. Szabo Z, Crepeau MW, Mitchell AL, Stephan MJ, Puntel RA, Yin Loke K, Kirk RC, Urban Z. Aortic aneurysmal disease and cutis laxa caused by defects in theelastin gene. J Med Genet. 2006 Mar;43(3):255-8.
  14. Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotypecorrelations. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R229-37.Review.
  15. Urbán Z, Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, Boyd CD, HinekA. Connection between elastin haploinsufficiency and increased cell proliferationin patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am JHum Genet. 2002 Jul;71(1):30-44.
  16. Urbán Z, Zhang J, Davis EC, Maeda GK, Kumar A, Stalker H, Belmont JW, Boyd CD,Wallace MR. Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene. Hum Genet. 2001 Nov;109(5):512-20.
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