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.
Peluso I, et al. Among authors: conte i.
Orphanet J Rare Dis. 2013 Jan 28;8:16. doi: 10.1186/1750-1172-8-16.
Orphanet J Rare Dis. 2013.
PMID: 23356391
Free PMC article.