Analysis of Potential Subtypes of SAPHO Syndrome

Hongji Duan1, Wangna Tang1, Xiaoli Deng1

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

PubMed

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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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