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Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.
Skorczyk-Werner A, Chiang WC, Wawrocka A, Wicher K, Jarmuż-Szymczak M, Kostrzewska-Poczekaj M, Jamsheer A, Płoski R, Rydzanicz M, Pojda-Wilczek D, Weisschuh N, Wissinger B, Kohl S, Lin JH, Krawczyński MR. Skorczyk-Werner A, et al. Eur J Hum Genet. 2017 Nov;25(11):1210-1216. doi: 10.1038/ejhg.2017.131. Epub 2017 Aug 16. Eur J Hum Genet. 2017. PMID: 28812650 Free PMC article.
Diagnostic methods in ocular argyrosis: case report.
Sarnat-Kucharczyk M, Pojda-Wilczek D, Mrukwa-Kominek E. Sarnat-Kucharczyk M, et al. Doc Ophthalmol. 2016 Oct;133(2):129-138. doi: 10.1007/s10633-016-9552-z. Epub 2016 Jul 8. Doc Ophthalmol. 2016. PMID: 27392933 Free PMC article.
58 results