| 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 | EFEMP2, CLAR1B
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| Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
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| Dasouki M, Markova D, Garola R, Sasaki T, Charbonneau NL, Sakai LY, Chu ML.
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| Am J Med Genet A 143(22):2635-41. 2007
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| 5 | EFEMP2, CLAR1B
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| Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
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| Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z.
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| Am J Hum Genet 78(6):1075-80. Epub 2006 Apr 10. 2006
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