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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMC
2019-08-01
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| Σειρά: | Orphanet Journal of Rare Diseases |
| Θέματα: | |
| Διαθέσιμο Online: | http://link.springer.com/article/10.1186/s13023-019-1161-y |
| Ετικέτες: |
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