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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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| Autores principales: | , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMC
2019-08-01
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| Colección: | Orphanet Journal of Rare Diseases |
| Materias: | |
| Acceso en línea: | http://link.springer.com/article/10.1186/s13023-019-1161-y |
| Etiquetas: |
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