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Ophthalmologic examination in the diagnosis of Proteus syndrome.
Bouzas EA, Krasnewich D, Koutroumanidis M, Papadimitriou A, Marini JC, Kaiser-Kupfer MI. Bouzas EA, et al. Ophthalmology. 1993 Mar;100(3):334-8. doi: 10.1016/s0161-6420(93)31645-3. Ophthalmology. 1993. PMID: 8460002 Review.
Menkes' syndrome: ophthalmic findings.
Gasch AT, Caruso RC, Kaler SG, Kaiser-Kupfer M. Gasch AT, et al. Ophthalmology. 2002 Aug;109(8):1477-83. doi: 10.1016/s0161-6420(02)01095-3. Ophthalmology. 2002. PMID: 12153799
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF. Li A, et al. Am J Hum Genet. 2004 May;74(5):817-26. doi: 10.1086/383228. Epub 2004 Mar 23. Am J Hum Genet. 2004. PMID: 15042513 Free PMC article.
135 results