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Items: 14

1.

Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.

Li Q, Schumacher W, Jablonski D, Siegel D, Uitto J.

Br J Dermatol. 2012 May;166(5):1107-11. doi: 10.1111/j.1365-2133.2012.10811.x. Epub 2012 Apr 4.

2.

Genetics in arterial calcification: lessons learned from rare diseases.

Nitschke Y, Rutsch F.

Trends Cardiovasc Med. 2012 Aug;22(6):145-9. doi: 10.1016/j.tcm.2012.07.011. Review.

PMID:
23122642
3.

[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].

Bergen AA, Plomp AS, Gorgels TG, de Jong PT.

Ned Tijdschr Geneeskd. 2004 Aug 7;148(32):1586-9. Review. Dutch.

PMID:
15382558
4.

Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment.

Marconi B, Bobyr I, Campanati A, Molinelli E, Consales V, Brisigotti V, Scarpelli M, Racchini S, Offidani A.

Intractable Rare Dis Res. 2015 Aug;4(3):113-22. doi: 10.5582/irdr.2015.01014. Review.

5.

Pseudoxanthoma elasticum.

Ohtani T, Furukawa F.

J Dermatol. 2002 Oct;29(10):615-20. Review.

PMID:
12432991
6.

Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders.

Li Q, Arányi T, Váradi A, Terry SF, Uitto J.

J Invest Dermatol. 2016 Mar;136(3):550-6. doi: 10.1016/j.jid.2015.10.065. Review.

7.

Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification.

Li Q, Jiang Q, Uitto J.

Matrix Biol. 2014 Jan;33:23-8. doi: 10.1016/j.matbio.2013.06.003. Epub 2013 Jul 25. Review.

8.

Pseudoxanthoma elasticum.

Roach ES, Islam MP.

Handb Clin Neurol. 2015;132:215-21. doi: 10.1016/B978-0-444-62702-5.00015-9. Review.

PMID:
26564082
9.

Does autosomal dominant pseudoxanthoma elasticum exist?

Plomp AS, Hu X, de Jong PT, Bergen AA.

Am J Med Genet A. 2004 May 1;126A(4):403-12. Review.

PMID:
15098239
10.

Mineralization/anti-mineralization networks in the skin and vascular connective tissues.

Li Q, Uitto J.

Am J Pathol. 2013 Jul;183(1):10-8. doi: 10.1016/j.ajpath.2013.03.002. Epub 2013 May 8. Review.

11.

Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel.

Rutsch F, Nitschke Y, Terkeltaub R.

Circ Res. 2011 Aug 19;109(5):578-92. doi: 10.1161/CIRCRESAHA.111.247965. Review.

12.

Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues.

Hosen MJ, Lamoen A, De Paepe A, Vanakker OM.

Scientifica (Cairo). 2012;2012:598262. doi: 10.6064/2012/598262. Epub 2012 Jul 25. Review.

13.

Heritable ectopic mineralization disorders: the paradigm of pseudoxanthoma elasticum.

Li Q, Uitto J.

J Invest Dermatol. 2012 Nov 15;132(E1):E15-9. doi: 10.1038/skinbio.2012.5. Review. No abstract available.

14.

From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders.

De Vilder EY, Vanakker OM.

World J Clin Cases. 2015 Jul 16;3(7):556-74. doi: 10.12998/wjcc.v3.i7.556. Review.

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