Cone-rod dystrophy, NGS
Genetic diagnosis of cone-rod dystrophy; clinical management of vision impairment.
Genelist (52): ABCA4, ADAM9, ADAMTS18, AIPL1, ARHGEF18, ATF6, BEST1, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP290, CEP78, CERKL, CFAP410, CFAP418, CLN3, CNGA3, CNGB3, CNNM4, CRB1, CRX, CYP4V2, DRAM2, EYS, GNAT2, GUCA1A, GUCY2D, KCNV2, MERTK, OPN1LW, OPN1MW, PCARE, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5, TULP1, UNC119
Featured Review
Genetic diagnosis of cone-rod dystrophy; clinical management of vision impairment.
Genelist (52): ABCA4, ADAM9, ADAMTS18, AIPL1, ARHGEF18, ATF6, BEST1, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP290, CEP78, CERKL, CFAP410, CFAP418, CLN3, CNGA3, CNGB3, CNNM4, CRB1, CRX, CYP4V2, DRAM2, EYS, GNAT2, GUCA1A, GUCY2D, KCNV2, MERTK, OPN1LW, OPN1MW, PCARE, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5, TULP1, UNC119