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Updated: Jan 11, 2026

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在患有非典型临床表现的患者中重新评估MYH9 p.I1816V变异

Takao Konomoto1, Fumito Wakamatsu2, Hiromi Sakaguchi3

  • 1Department of Pediatrics, Faculty of Medicine, University of Miyazaki, 5200 Kiyotake-Cho, Kihara Miyazaki City, Miyazaki, Japan. konomoto@med.miyazaki-u.ac.jp.

Pediatric nephrology (Berlin, Germany)
|November 16, 2025
PubMed
概括

与MYH9相关的疾病 (MYH9-RD) 在诊断方面存在挑战. 在一个患有脏问题但缺乏典型的MYH9-RD症状的患者中发现了一种罕见的MYH9变体 (p.I1816V),突出了诊断复杂性.

关键词:
基因型表型不一致 基因型表型不一致与MYH9相关的疾病这是下一代测序.在P.I1816V变种中.蛋白质尿症是一种蛋白质尿症.

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