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单词 Pseudoxanthoma elasticum
释义

Pseudoxanthoma elasticum

英语例句库

The diagnosis was made as pseudoxanthoma elasticum.

诊断为弹性纤维性假黄瘤。

英语百科

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum has an autosomal recessive pattern of inheritance.

Pseudoxanthoma elasticum (PXE), also known as Grönblad–Strandberg syndrome, is a genetic disease that causes fragmentation and mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis. PXE is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16 (16p13.1).

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更新时间:2025/6/20 3:20:29