Ontology highlight
ABSTRACT:
SUBMITTER: Peluso I
PROVIDER: S-EPMC3568033 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Peluso Ivana I Conte Ivan I Testa Francesco F Dharmalingam Gopuraja G Pizzo Mariateresa M Collin Rob W J RW Meola Nicola N Barbato Sara S Mutarelli Margherita M Ziviello Carmela C Barbarulo Anna Maria AM Nigro Vincenzo V Melone Mariarosa A B MA Simonelli Francesca F Banfi Sandro S
Orphanet journal of rare diseases 20130128
<h4>Background</h4>Inherited retinal dystrophies, including Retinitis Pigmentosa and Leber Congenital Amaurosis among others, are a group of genetically heterogeneous disorders that lead to variable degrees of visual deficits. They can be caused by mutations in over 100 genes and there is evidence for the presence of as yet unidentified genes in a significant proportion of patients. We aimed at identifying a novel gene for an autosomal recessive form of early onset severe retinal dystrophy in a ...[more]