Uitto Jouni, Jiang Qiujie
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
J Invest Dermatol. 2007 Mar;127(3):507-10. doi: 10.1038/sj.jid.5700635.
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 PXE-like 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.
经典的弹性假黄瘤（PXE）表型源于ABCC6基因突变。在许多疾病中都观察到了类似PXE的表型，但没有ABCC6基因突变的证据。Vanakker等人报告了在对gla蛋白γ-羧化至关重要的GGCX基因突变患者中出现类似PXE的皮肤表现。该报告扩展了类似PXE病症的临床谱，也为异位矿化过程提供了潜在的见解。
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