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Updated: Jun 10, 2025

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在一个带有小头症,智力障碍和多重形的试验对象中,两种新型PNKP拼接位变异的表征

Ugo Sorrentino1, Elisa Baschiera1,2, Maria Andrea Desbats1,2

  • 1Department of Women's and Children's Health, University of Padova, Padova, Italy.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
|October 17, 2024
PubMed
概括

在一个患有异常神经症状的患者身上发现了PNKP基因的新变异,扩大了神经发育障碍的已知遗传原因. 这项研究强调了与PNKP基因突变相关的各种临床表现.

关键词:
在PNKP中,PNKP是PNKP.MCSZZMCSZZMCSZZMCSZZMCSZMCSZZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCSZMCS亚特里西亚亚特里西亚亚是什么意思自体逆向的小头症.发作 发作 这些

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