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致残的松硬性形态:一个世纪的发现

Vivian K Hua1, Johanna Chang2,3, Ronald M Laxer4,5

  • 1Department of Pediatrics, University of California-San Diego, La Jolla, CA, USA.

The British journal of dermatology
|November 9, 2024
PubMed
概括

致残性泛硬化形态 (DPM) 是一种罕见的,严重的皮质硬化症,影响儿童,其特点是迅速,广泛的皮肤和组织硬化. 目前的治疗方法有效性有限,结果不受使用的干预措施数量的影响.

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相关概念视频

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...