Article
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
Orphanet journal of rare diseases - 28 Jan 2013
Peluso Ivana, Conte Ivan, Testa Francesco, Dharmalingam Gopuraja, Pizzo Mariateresa, Collin Rob W J, Meola Nicola, Barbato Sara, Mutarelli Margherita, Ziviello Carmela, Barbarulo Anna Maria, Nigro Vincenzo, Melone Mariarosa A B, Simonelli Francesca, Banfi Sandro
Abstract excerpt
BACKGROUND: 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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.