Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report
出版年份 2023 全文链接
标题
Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report
作者
关键词
-
出版物
BMC Medical Genomics
Volume 16, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2023-11-06
DOI
10.1186/s12920-023-01599-4
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
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- Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
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