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An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
Lindblad K, Savontaus ML, Stevanin G, Holmberg M, Digre K, Zander C, Ehrsson H, David G, Benomar A, Nikoskelainen E, Trottier Y, Holmgren G, Ptacek LJ, Anttinen A, Brice A, Schalling M. Lindblad K, et al. Genome Res. 1996 Oct;6(10):965-71. doi: 10.1101/gr.6.10.965. Genome Res. 1996. PMID: 8908515 Free article.
Clinical Reasoning: A 22-year-old man with diplopia.
Meyer C, Wynn DP, Pulst SM, Chen R, Digre K. Meyer C, et al. Neurology. 2017 Aug 1;89(5):e45-e49. doi: 10.1212/WNL.0000000000004187. Neurology. 2017. PMID: 28760921 No abstract available.
An inherited disorder with splenomegaly, cytopenias, and vision loss.
Tantravahi SK, Williams LB, Digre KB, Creel DJ, Smock KJ, DeAngelis MM, Clayton FC, Vitale AT, Rodgers GM. Tantravahi SK, et al. Among authors: digre kb. Am J Med Genet A. 2012 Mar;158A(3):475-81. doi: 10.1002/ajmg.a.34437. Epub 2012 Feb 3. Am J Med Genet A. 2012. PMID: 22307799 Free PMC article.
259 results