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泽尔韦格综合症:一个病例报告

Prajwala Yogi1, Chunauti Bahik1, Rahul Yadav1

  • 1Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.

JNMA; journal of the Nepal Medical Association
|February 27, 2024
PubMed
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泽尔韦格综合征是一种过氧体生物发生障碍,呈现出严重的新生儿功能障碍. 通过全基因组测序即时诊断对于护理,遗传检测和咨询至关重要.

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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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