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Updated: Sep 11, 2025

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FAM20C基因上的同名单核酸变体导致非致命的雷恩综合征

Bayram Toraman1, İdris Er1, Burak Kaan Kasap2

  • 1Faculty of Medicine, Department of Medical Biology, Karadeniz Technical University, Trabzon, Turkey.

Human molecular genetics
|August 12, 2025
PubMed
概括

雷恩综合征 (RNS) 是一种罕见的骨发育不良,与FAM20C基因突变有关. 这种基因中的新型同名变异会导致12个氨基酸插入,通过破坏蛋白质定位,导致一种非致命的RNA形式.

关键词:
在FAM20C基因.雷恩综合征是什么 雷恩综合征是什么低形态突变是一种低形态突变.同义词的变化变化.

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