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阵发性哭闹伴运动倒退2月余
The patient was a male who was found to be abnormal at the age of 4.5 months. He presented with irritability, motor regression and opisthotonus. Brain MRI revealed bilateral abnormality in the lentiform nucleus, thalamus, deutocerebrum and cerebellar hemispheres. Novel compound heterozygous mutation...
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| 出版年: | Zhongguo Dang Dai Er Ke Za Zhi |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
中国当代儿科杂志编辑部
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389214/ https://ncbi.nlm.nih.gov/pubmed/31014436 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2019.04.018 |
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