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A novel phenotype associated with the R162W variant in the KCNJ13 gene.
Schroeder M, Peter VG, Gränse L, Andréasson S, Rivolta C, Kjellström U. Schroeder M, et al. Among authors: kjellstrom u. Ophthalmic Genet. 2022 Aug;43(4):500-507. doi: 10.1080/13816810.2022.2068041. Epub 2022 Apr 27. Ophthalmic Genet. 2022. PMID: 35477418
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andréasson S, Rivolta C. Nikopoulos K, et al. Among authors: kjellstrom u. Am J Hum Genet. 2016 Sep 1;99(3):770-776. doi: 10.1016/j.ajhg.2016.07.009. Am J Hum Genet. 2016. PMID: 27588451 Free PMC article.
30 results