Cutis laxa
Definition:
References:
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[1]. Bert Callewaert, et al. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat. 2011 Apr;32(4):445-55. [Content Brief]
[2]. Bruno Reversade, et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet. 2009 Sep;41(9):1016-21. [Content Brief]
[3]. David L Skidmore, et al. Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). Am J Med Genet A. 2011 Aug;155A(8):1848-56. [Content Brief]
[4]. Dessislava Markova, et al. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet. 2003 Apr;72(4):998-1004. [Content Brief]
[5]. Eva Morava, et al. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet. 2009 Sep;17(9):1099-110. [Content Brief]
[6]. Lore Pottie, et al. Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. Am J Hum Genet. 2021 Jun 3;108(6):1095-1114. [Content Brief]
[7]. Neerja Gupta, et al. Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. Pediatr Dermatol. 2006 May-Jun;23(3):225-30. [Content Brief]
[8]. Tim Van Damme, et al. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. Am J Hum Genet. 2017 Feb 2;100(2):216-227. [Content Brief]
[9]. Uwe Kornak, et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008 Jan;40(1):32-4. [Content Brief]
[10]. Vishwanathan Hucthagowder, et al. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet. 2006 Jun;78(6):1075-80. [Content Brief]
[11]. Zsolt Urban, et al. Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Am J Hum Genet. 2009 Nov;85(5):593-605. [Content Brief]
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