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