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3. Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate. Omarjee L; Nitschke Y; Verschuere S; Bourrat E; Vignon MD; Navasiolava N; Leftheriotis G; Kauffenstein G; Rutsch F; Vanakker OM; Martin L Br J Dermatol; 2020 Aug; 183(2):367-372. PubMed ID: 31646622 [TBL] [Abstract][Full Text] [Related]
4. Classic pseudoxanthoma elasticum in a patient with sickle cell disease. van Meurs T; van Hagen JM; van de Scheur MR; Vermaat H; Ruijs MW; van den Hoogenband HM; Starink TM J Am Acad Dermatol; 2007 Jan; 56(1):170-1. PubMed ID: 17190641 [No Abstract] [Full Text] [Related]
6. Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the Mishra AV; Martens R; MacDonald IM Ophthalmic Genet; 2024 Feb; 45(1):108-111. PubMed ID: 37259549 [TBL] [Abstract][Full Text] [Related]
7. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. Chassaing N; Martin L; Calvas P; Le Bert M; Hovnanian A J Med Genet; 2005 Dec; 42(12):881-92. PubMed ID: 15894595 [TBL] [Abstract][Full Text] [Related]
8. New ABCC6 gene mutations in German pseudoxanthoma elasticum patients. Hendig D; Schulz V; Eichgrün J; Szliska C; Götting C; Kleesiek K J Mol Med (Berl); 2005 Feb; 83(2):140-7. PubMed ID: 15723264 [TBL] [Abstract][Full Text] [Related]
9. [Increased haemoglobin A2 levels in pseudoxanthoma elasticum]. Martin L; Pissard S; Blanc P; Chassaing N; Legac E; Briault S; Le Bert M; Le Saux O Ann Dermatol Venereol; 2006; 133(8-9 Pt 1):645-51. PubMed ID: 17053732 [TBL] [Abstract][Full Text] [Related]
10. [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene]. Bergen AA; Plomp AS; Gorgels TG; de Jong PT Ned Tijdschr Geneeskd; 2004 Aug; 148(32):1586-9. PubMed ID: 15382558 [TBL] [Abstract][Full Text] [Related]
11. Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum. Iwanaga A; Okubo Y; Yozaki M; Koike Y; Kuwatsuka Y; Tomimura S; Yamamoto Y; Tamura H; Ikeda S; Maemura K; Tsuiki E; Kitaoka T; Endo Y; Mishima H; Yoshiura KI; Ogi T; Tanizaki H; Wataya-Kaneda M; Hattori T; Utani A J Dermatol; 2017 Jun; 44(6):644-650. PubMed ID: 28186352 [TBL] [Abstract][Full Text] [Related]
12. Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes. Aessopos A; Farmakis D; Loukopoulos D Blood; 2002 Jan; 99(1):30-5. PubMed ID: 11756149 [TBL] [Abstract][Full Text] [Related]
14. Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals. Ramsay M; Greenberg T; Lombard Z; Labrum R; Lubbe S; Aron S; Marais AS; Terry S; Bercovitch L; Viljoen D J Dermatol Sci; 2009 Jun; 54(3):198-204. PubMed ID: 19339160 [TBL] [Abstract][Full Text] [Related]
15. Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE). Schulz V; Hendig D; Henjakovic M; Szliska C; Kleesiek K; Götting C Hum Mutat; 2006 Aug; 27(8):831. PubMed ID: 16835894 [TBL] [Abstract][Full Text] [Related]
16. Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum. Martin L; Chassaing N; Delaite D; Estève E; Maître F; Le Bert M J Eur Acad Dermatol Venereol; 2007 Mar; 21(3):368-73. PubMed ID: 17309461 [TBL] [Abstract][Full Text] [Related]
17. Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE). Noji Y; Inazu A; Higashikata T; Nohara A; Kawashiri MA; Yu W; Todo Y; Nozue T; Uno Y; Hifumi S; Mabuchi H Intern Med; 2004 Dec; 43(12):1171-6. PubMed ID: 15645653 [TBL] [Abstract][Full Text] [Related]
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19. Pseudoxanthoma elasticum-like fibers in the inflamed skin of patients without pseudoxanthoma elasticum. Bowen AR; Götting C; LeBoit PE; McCalmont TH J Cutan Pathol; 2007 Oct; 34(10):777-81. PubMed ID: 17880583 [TBL] [Abstract][Full Text] [Related]
20. Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. Martin L; Maître F; Bonicel P; Daudon P; Verny C; Bonneau D; Le Saux O; Chassaing N Arch Dermatol; 2008 Mar; 144(3):301-6. PubMed ID: 18347285 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]