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Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration
IMPORTANCE: The PROM1 gene, commonly associated with cone-rod dystrophies, may have dominant or recessive phenotypes that influence disease onset and severity. OBJECTIVE: To characterize the clinical phenotype and molecular genetic variations in patients with PROM1 variants. DESIGN, SETTING, AND PAR...
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| Publié dans: | JAMA Netw Open |
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| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
American Medical Association
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6575153/ https://ncbi.nlm.nih.gov/pubmed/31199449 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamanetworkopen.2019.5752 |
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