Citations for
1ATP6V0A2, CLAR1A, CLAR1B, CLAR2, EFEMP2, FBLN5
Autosomal recessive cutis laxa syndrome revisited.
Morava E, Guillard M, Lefeber DJ, Wevers RA.
Eur J Hum Genet 17(9):1099-110. Epub 2009 Apr 29. Review.PMID: 19401719 2009
2CLAR1A, CLAR1B, EFEMP2, FBLN5
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.
Hoyer J, Kraus C, Hammersen G, Geppert JP, Rauch A.
Clin Genet 76(3):276-81. Epub 2009 Aug 3. 2009
3CLAR1A, CLAR1B, EFEMP2, FBLN5, LOX
Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.
Scherrer DZ, Alexandrino F, Cintra ML, Sartorato EL, Steiner CE.
Am J Med Genet A 146A(21):2740-5. 2008
4ARMD3, CLAR1A, FBLN5
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
Lotery AJ, Baas D, Ridley C, Jones RP, Klaver CC, Stone E, Nakamura T, Luff A, Griffiths H, Wang T, Bergen AA, Trump D.
Hum Mutat 27(6):568-74. 2006
5CLAR1A, FBLN5
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML.
Am J Hum Genet 72(4):998-1004. Epub 2003 Feb 28. 2003
6CLAR1A, FBLN5
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A.
Hum Mol Genet 11(18):2113-8. 2002