ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.

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Last Posted: Mar 09, 2018

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• ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.  
  Moitra Karobi et al. International journal of molecular sciences 2017 Jul (7)
• Clinical utility gene card: for pseudoxanthoma elasticum.  
  Legrand Anne et al. European journal of human genetics : EJHG 2018 Feb
• Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.  
  Iwanaga Akira, et al. The Journal of dermatology 2017 2
• Pseudoxanthoma Elasticum - Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum.  
  Pingel Simon, et al. PloS one 2016 0 (9) e0162337
• The Genetics of Soft Connective Tissue Disorders.  
  Vanakker Olivier et al. Annual review of genomics and human genetics 2015 229-55
• Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum.  
  Dabisch-Ruthe Mareike, et al. Clinical biochemistry 2014 10 (15) 60-7

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