Last Posted: Dec 28, 2021
- Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives.
Stumpf Max Jonathan et al. Biomedicines 2021 9(12)
- Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.
Legrand Anne, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 0 (8) 909-917
- ABCC6 Deficiency Promotes Development of Randall Plaque.
Letavernier Emmanuel, et al. Journal of the American Society of Nephrology : JASN 2018 9 (9) 2337-2347
- EYES WITH SUBRETINAL DRUSENOID DEPOSITS AND NO DRUSEN: Progression of Macular Findings.
Spaide Richard F, et al. Retina (Philadelphia, Pa.) 2018 10
- 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 18(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
- Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum.
Dabisch-Ruthe Mareike, et al. Clinical biochemistry 2014 10 (15) 60-7
- Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
Jin Liang, et al. The Journal of investigative dermatology 2015 5 (5) 1294-302
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