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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.
Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI. Saksens NT, et al. Among authors: van moorsel tw. Nat Genet. 2016 Feb;48(2):144-51. doi: 10.1038/ng.3474. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691986 Free PMC article.