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Updated: Jan 11, 2026

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在成年期发现的一种罕见的PBX1变体:一个病例报告

Ah-Rim Han1,2, Youngyoon Moon1,2, Yang-Gyun Kim2,3

  • 1Department of Medicine, Graduate School, Kyung Hee University, Seoul, Republic of Korea.

Frontiers in medicine
|November 19, 2025
PubMed
概括

在PBX1基因中的异常会导致脏和尿路的先天性异常 (CAKUT). 一种新型的PBX1变异在患者中引起慢性病和焦点细分质硬化症,突出了PBX1变异.

关键词:
一个PBX1的PBX1.早期发作的慢性病慢性病.焦点细分型凝聚体硬化蛋白质尿症是一种蛋白质尿症.罕见的变种 罕见的变种管状尸体的灭亡 管状尸体的灭亡

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