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
More
Search Result Summary
- CDC Information (0)
- NIH Information (2)
- CDC Publications (0)
- Human Genome Epidemiologic Studies (28)
- GWAS Studies (0)
- Human Genomics Translation/Implementation Studies (0)
- Genomic Tests Evidence Synthesis (1)
- Genomic Tests Guidelines (0)
- Tier-Classified Guidelines (0)
- Non-Genomics Precision Health (0)
- Pathogen Advanced Molecular Detection (0)
- State Public Health Genomics Programs (0)
- Ethical/Legal and Social Issues (ELSI) (0)
Quick Links to Other Resources
Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Oct 1, 2021
- Page last updated:Jun 30, 2022
- Content source: