Pseudoxanthoma elasticum-like phenotypes: More diseases than one

被引：7

作者：

Uitto, Jouni

Jiang, Qiujie

机构：

[1] Jefferson Med Coll, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA

[2] Thomas Jefferson Univ, Jefferson Inst Mol Med, Philadelphia, PA USA

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2007年 / 127卷 / 03期

关键词：

D O I：

10.1038/sj.jid.5700635

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

The classic pseudoxanthoma elasticum (PXE) phenotype derives from mutations in ABCC6. PXE-like phenotypes have been observed in a number of disorders, with no evidence of mutations in ABCC6. Vanakker et al. report PXElike skin findings in patients with mutations in GGCX critical for gamma-carboxylation of gla-proteins. This report expands the clinical spectrum of PXE-like conditions and also provides potential insights into the ectopic mineralization process.

引用

页码：507 / 510

页数：5

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