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Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome
Abstract Background Wolfram Syndrome (WFS) is a rare autosomal recessive neurodegenerative disease which has a wide spectrum of manifestations including diabetes insipidus, diabetes mellitus, optic atrophy and deafness. WFS1 and CISD2 are two main causing genes of WFS. The aim of this study was to i...
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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMC
2019-08-01
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| シリーズ: | Orphanet Journal of Rare Diseases |
| 主題: | |
| オンライン･アクセス: | http://link.springer.com/article/10.1186/s13023-019-1161-y |
| タグ: |
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