SAPHO

Hongji Duan1, Wangna Tang1, Xiaoli Deng1

  • 1Beijing Jishuitan Hospital, Capital Medical University, Beijing 100035, China.

PubMed
概括

集群分析确定了三种类型的Synovitis,,Pustulosis,Hyperostosis和骨炎 (SAPHO) 综合征:典型的,轴向的和外围的. 所有亚型都在及时治疗后迅速改善,有助于诊断和理解这种异质性疾病.

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,...
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