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 - Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum.
Kringen Marianne K, et al. Molecular genetics & genomic medicine 2015 5 (3) 233-7 - Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
Hosen Mohammad J, et al. The Journal of investigative dermatology 2015 4 (4) 992-8 - Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Yvonne, et al. American journal of human genetics 2012 1 (1) 25-39 - Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease.
Hornstrup Louise S, et al. Circulation. Cardiovascular genetics 2011 10 (5) 534-41 - Pseudoxanthoma elasticum
From NCATS Genetic and Rare Diseases Information Center - Pseudoxanthoma elasticum, forme fruste
From NCATS Genetic and Rare Diseases Information Center - Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij Judith C, et al. Ophthalmology 2011 1 (1) 160-167.e1-3 - Analysis of MMP2 promoter polymorphisms in patients with pseudoxanthoma elasticum.
Zarbock Ralf, et al. Clinica chimica acta; international journal of clinical chemistry 2010 10 (19-20) 1487-90 - The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease.
Köblös Gabriella, et al. Genetic testing and molecular biomarkers 2010 2 (1) 75-8 - Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.
Plomp Astrid S, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2009 12 (12) 852-8
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