PNKP mutation in a child: is there a firm line between MCSZ and AOA4 phenotype?

IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Neurologia i neurochirurgia polska Pub Date : 2024-01-01 Epub Date: 2024-01-17 DOI:10.5603/pjnns.97269
Isidora Semnic, Tamara Ristic, Katarina Koprivsek
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一名儿童的 PNKP 基因突变:MCSZ 和 AOA4 表型之间有明确的界限吗?
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来源期刊
Neurologia i neurochirurgia polska
Neurologia i neurochirurgia polska 医学-临床神经学
CiteScore
4.20
自引率
27.60%
发文量
128
审稿时长
6-12 weeks
期刊介绍: Polish Journal of Neurology and Neurosurgery is an official journal of the Polish Society of Neurology and the Polish Society of Neurosurgeons, aimed at publishing high quality articles within the field of clinical neurology and neurosurgery, as well as related subspecialties. For more than a century, the journal has been providing its authors and readers with the opportunity to report, discuss, and share the issues important for every-day practice and research advances in the fields related to neurology and neurosurgery.
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