Leber congenital amaurosis 18 is an autosomal recessive or dominant disorder caused by mutations of the PRPH2 gene.
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Jordan SA et al. (1992) Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin. |
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OMIM.ORG article Omim 608133 |