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Genetic Conditions
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cutis laxa
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References
These sources were used to develop the Genetics Home Reference
condition summary
on cutis laxa.
Gene Review: ATP6V0A2-Related Cutis
Laxa
Gene Review: ATP7A-Related Copper Transport
Disorders
Gene Review: FBLN5-Related Cutis
Laxa
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
Hu Q, Loeys BL, Coucke PJ, De Paepe A, Mecham RP, Choi J, Davis EC, Urban Z. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet. 2006 Dec 1;15(23):3379-86. Epub 2006 Oct 11.
PubMed citation
Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol. 1998 Jan-Feb;1(1):85-98. Review.
PubMed citation
Kielty CM. Elastic fibres in health and disease. Expert Rev Mol Med. 2006 Aug 8;8(19):1-23. Review.
PubMed citation
Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008 Jan;40(1):32-4. Epub 2007 Dec 23.
PubMed citation
Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet. 2009 Sep;17(9):1099-110. doi: 10.1038/ejhg.2009.22. Epub 2009 Apr 29. Review.
PubMed citation
Reviewed: June 2009
Published: May 13, 2013
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