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Updated: May 11, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
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Published on: February 3, 2012

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病例报告:患有WT1变异的儿童患有多囊性外观的新生儿病

Tuyen Thi Thanh Nguyen1,2, Quynh Thuy Huong Tran3, Huong Thi Thanh Nguyen1

  • 1Neonatalogy 2 - Metabolism - Genetics Department, Children's Hospital 1, Ho Chi Minh City, Vietnam.

Frontiers in pediatrics
|December 26, 2025
PubMed
概括

一种罕见的WT1基因突变 (p.Arg467Gln) 导致新生儿严重功能衰竭和婴儿性的出现. 这一发现凸显了WT1变异在威尔姆斯瘤相关脏病的强大影响.

关键词:
威尔姆斯瘤是一种瘤.原蛋白是一种原蛋白.囊性脏 囊性脏是什么?发生性腺发展.造成功能衰竭.

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