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Updated: Jan 17, 2026

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ARID1A基因变异和胎儿水头发症:mRNA衰变逃脱的第一个证据

Yuya Tanaka1, Mamiko Yamada2, Fuyuki Miya2

  • 1Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

European journal of medical genetics
|September 17, 2025
PubMed
概括

ARID1A变种与BAF病变和水头有关. 这项研究发现,一个患有水头症和ARID1A变异的胎儿被映射到BAFopathy表观基因谱中,这表明它.

关键词:
在 ARID1A 中.这是一种BAF病变.一个副签名的标志.没有意义的介导mRNA衰变 (NMD)胎儿的水脑.

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