Leber congenital amaurosis 03
Leber congenital amaurosis 3 is an autosomal recessive disorder caused by mutations of the SPATA7 gene.
Gu SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.[^]
Li Y et al. (2009) Mutation survey of known LCA genes and loci in the Saudi Arabian population.[^]
Wang H et al. (2009) Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.[^]
Mackay DS et al. (2011) Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.[^]
Stockton DW et al. (1998) A novel locus for Leber congenital amaurosis on chromosome 14q24.[^]
OMIM.ORG articleOmim 604232 [^]