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CDHR1 mutations in retinal dystrophies
We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene. Detailed ophthalmic examination was performed in seven sporadic and six familial subjec...
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| Pubblicato in: | Sci Rep |
|---|---|
| Autori principali: | , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group UK
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5539332/ https://ncbi.nlm.nih.gov/pubmed/28765526 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-07117-8 |
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