A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

por Haque, Muhammad Nazmul, Kurata, Kentaro, Hosono, Katsuhiro, Ohtsubo, Masafumi, Ohishi, Kentaro, Sato, Miho, Minoshima, Shinsei, Hotta, Yoshihiro
Publicado 2019