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Updated: May 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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儿童的丹尼斯-德拉什综合征中的基因型-表型相关性

Mathilde Glénisson1,2, Mathilde Grapin3, Thomas Blanc1,2

  • 1Service de chirurgie viscérale, urologie et transplantation, Hôpital Necker-Enfants malades, GH Centre, Assistance Publique-Hôpitaux de Paris, Paris, France.

Kidney international reports
|April 30, 2025
PubMed
概括

儿童的德尼斯-德拉什综合征 (DDS) 与8或9号外显子中的WT1基因变异有关. 异位素8变体与早期瘤综合征和功能衰竭相关,而异位素9变体与威尔姆斯瘤发展有关.

关键词:
丹尼斯-德拉什综合征是什么意思脏病综合征 - 脏病综合征在WT1中,WT1就是WT1.

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