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Updated: Jun 21, 2025

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将LRP12 CGG重复扩张与遗传的外围神经病变联系起来

Takahiro Hobara1, Masahiro Ando2, Yujiro Higuchi1

  • 1Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.

Journal of neurology, neurosurgery, and psychiatry
|July 16, 2024
PubMed
概括

基因检测发现LRP12 CGG重复扩张是日本患者遗传性外围神经病变 (IPN) 的常见原因. 这一发现需要更新IPN诊断的基因查策略.

关键词:
海军舰船 (查科特 - 玛丽 - 图斯)神经遗传学 神经遗传学这是神经肌肉.神经病变是一种神经病变.

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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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