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GJB1 Mutation-A Disease Spectrum: Report of Case Series
Introduction: Patients with GJB1 mutations manifested as pure central nervous system (CNS) involvement without peripheral neuropathy have not been adequately reported. To expand the disease spectrum of GJB1 mutations, we report a case series. Methods: Eleven patients from 9 families with GJB1 mutati...
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| 出版年: | Front Neurol |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6974795/ https://ncbi.nlm.nih.gov/pubmed/32010055 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.01406 |
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