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CRB1: one gene, many phenotypes.
Ehrenberg M, Pierce EA, Cox GF, Fulton AB. Ehrenberg M, et al. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):397-405. doi: 10.3109/08820538.2013.825277. Semin Ophthalmol. 2013. PMID: 24138049 Review.
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, Ehrenberg M, Leibu R, Newman H, Shomron N, Banin E, Perlman I. Sharon D, et al. Among authors: ehrenberg m. Hum Mutat. 2020 Jan;41(1):140-149. doi: 10.1002/humu.23903. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31456290
Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child.
Weiss S, Cohen L, Ben-Yosef T, Ehrenberg M, Goldenberg-Cohen N. Weiss S, et al. Among authors: ehrenberg m. Ophthalmic Genet. 2019 Feb;40(1):7-11. doi: 10.1080/13816810.2018.1561900. Epub 2019 Jan 2. Ophthalmic Genet. 2019. PMID: 30600744
285 results