The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

Peluso I, Conte I, Testa F, Dharmalingam G, Pizzo M, Collin RW, Meola N, Barbato S, Mutarelli M, Ziviello C, Barbarulo AM, Nigro V, Melone MA; European Retinal Disease Consortium, Simonelli F, Banfi S. The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis. 2013 Jan 28;8:16.