| 1 | GLSPS
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| Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome.
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| Mariën P, Brouns R, Engelborghs S, Wackenier P, Verhoeven J, Ceulemans B, De Deyn PP.
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| Cortex 44(1):54-67. Epub 2007 Nov 17.
2008
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| 2 | GLSPS, PAX6
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| A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.
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| Graziano C, D'Elia AV, Mazzanti L, Moscano F, Guidelli Guidi S, Scarano E, Turchetti D, Franzoni E, Romeo G, Damante G, Seri M.
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| Am J Med Genet A 143A(15):1802-5. No abstract available.
2007
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| 3 | GLSPS
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| Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome.
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| Nevin NC, Lim JH.
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| Am J Med Genet 35(4):468-9.
1990
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| 4 | GLSPS
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| Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations.
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| Crawfurd MD, Harcourt RB, Shaw PA.
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| J Med Genet 16(5):373-8.
1979
|