A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis.

Conclusions: Identifying new mutations in Leber congenital amaurosis-related genes and their clinical manifestations can improve our understanding of the disease and could help to stratify the population for potential therapies. PMID: 27116508 [PubMed - as supplied by publisher]
Source: Klinische Monatsblatter fur Augenheilkunde - Category: Opthalmology Tags: Klin Monbl Augenheilkd Source Type: research