NOVEL INTRONIC VARIANTS IN UNCONVENTIONAL GENE CLUSTER COULD LEAD TO THE IDENTIFICATION OF A NEW RETINITIS PIGMENTOSA PHENOTYPE
The Retinitis pigmentosa (RP) is an inherited heterogeneous ocular disorder characterized by progressive retinal degeneration. Although at least 50 genes are known to be causative of RP, many others are still unidentified. We describe a Sicilian female patient affected by an unknown form of RP. Sh...
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| Format: | Article |
| Language: | English |
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Associazione Italiana Giovani Medici
2017-04-01
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| Series: | Euromediterranean Biomedical Journal |
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| Online Access: | http://www.embj.org/joomla335/index.php?option=com_k2&view=item&id=287 |