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SPATA7: Evolving Phenotype from Cone-Rod Dystrophy to Retinitis Pigmentosa
BACKGROUND: SPATA7 mutations have been associated with different autosomal recessive retinal degeneration phenotypes. Long-term follow-up has not been described in detail. MATERIALS AND METHODS: A Hispanic patient with SPATA7 mutations was evaluated serially over a 12-year period with kinetic and st...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Ophthalmic Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4988809/ https://ncbi.nlm.nih.gov/pubmed/26854980 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/13816810.2015.1130154 |
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