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皮肤镶嵌现象:分子与临床综述

Cutaneous mosaicism: a molecular and clinical review.

作者信息

Siegel Dawn H

机构信息

Department of Dermatology and Pediatrics, Oregon Health & Science University, 3303 SW Bond Avenue, CH16D, Portland, OR 97239, USA.

出版信息

Adv Dermatol. 2008;24:223-44. doi: 10.1016/j.yadr.2008.09.011.

Abstract

Physicians have long been intrigued by the distinct patterns created by epidermal nevi and other mosaic cutaneous disorders. Although many of the molecular mechanisms underlying these disorders remain unrevealed, with the release of the results of the Human Genome Project our knowledge is rapidly increasing. The underlying genetic defects for many of the X-linked and mosaic disorders have recently been identified. Advances in technology, such as the array comparative genomic hybridization, will provide the tools for continued gene discovery and expanded understanding of the pathogenic mechanisms underlying mosaic skin conditions.

摘要

长期以来,医生们一直对表皮痣和其他嵌合性皮肤疾病所产生的独特模式很感兴趣。尽管这些疾病背后的许多分子机制仍未被揭示,但随着人类基因组计划结果的公布,我们的知识正在迅速增加。许多X连锁和嵌合性疾病的潜在基因缺陷最近已被确定。诸如阵列比较基因组杂交等技术的进步,将为持续的基因发现以及对嵌合性皮肤病致病机制的更深入理解提供工具。

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