Geroderma osteodysplasticum
Definition:
References:
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[1]. Anna Rajab, et al. Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. Am J Med Genet A. 2008 Apr 15;146A(8):965-76. [Content Brief]
[2]. Eva Morava, et al. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet. 2009 Sep;17(9):1099-110. [Content Brief]
[3]. Hans Christian Hennies, et al. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet. 2008 Dec;40(12):1410-2. [Content Brief]
[4]. Yeşerin Yildirim, et al. The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. Am J Med Genet A. 2011 Jan;155A(1):134-40. [Content Brief]
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