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...

Full description

Bibliographic Details
Main Author: Luigi Donato
Format: Article
Language:English
Published: Associazione Italiana Giovani Medici 2017-04-01
Series:Euromediterranean Biomedical Journal
Subjects:
Online Access:http://www.embj.org/joomla335/index.php?option=com_k2&view=item&id=287

Similar Items