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THE RP2 PHENOTYPE AND PATHOGENETIC CORRELATIONS IN X-LINKED RETINITIS PIGMENTOSA
OBJECTIVE: To assess the phenotype of X-linked retinitis pigmentosa (XLRP) patients with RP2 mutations and correlate the findings with their genotype. CLINICAL RELEVANCE: An identifiable phenotype for RP2-XLRP aids in clinical diagnosis and targeted genetic screening. METHODS: Over 600 XLRP patients...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2010
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3392190/ https://ncbi.nlm.nih.gov/pubmed/20625056 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archophthalmol.2010.122 |
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