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Updated: Jun 28, 2026

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在瑞典初级家族脑化队列中发现了新的发现

Stefan Sennfält1, Peter Gustavsson2, Helena Malmgren2

  • 1Department of Neurology, Karolinska University Hospital, Hälsovägen 13 R52, 141 86 Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Nobels väg 6, 171 77 Stockholm, Sweden.

Journal of the neurological sciences
|April 20, 2024
PubMed
概括

初级家族性脑化 (PFBC) 显示出不同的症状和进展. 在SLC20A2基因中发现了一种新的致病变体,但许多病例仍然无法从遗传学上解释.

关键词:
这是PDGFBB.现在的PFBC是什么?主要家族性大脑化在SLC20A2中,SLC20A2是SLC20A2中的一个.

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