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Ocular and Systemic Findings in Adults with Uveal Coloboma.
Daich Varela M, Huryn LA, Hufnagel RB, Zein WM, Blain D, Brooks BP. Daich Varela M, et al. Ophthalmology. 2020 Dec;127(12):1772-1774. doi: 10.1016/j.ophtha.2020.05.028. Epub 2020 May 17. Ophthalmology. 2020. PMID: 32434002 Free PMC article.
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.
Daich Varela M, Hufnagel RB, Guan B, Blain D, Sapp JC, Gropman AL, Alur R, Johnston JJ, Biesecker LG, Brooks BP. Daich Varela M, et al. Ophthalmic Genet. 2021 Jun;42(3):320-325. doi: 10.1080/13816810.2021.1888127. Epub 2021 Mar 15. Ophthalmic Genet. 2021. PMID: 33719903 Free PMC article.