Kohlschütter-Tönz sendromu
Kalıtsal - AR
Gelişme geriliği
Amelogenesis imperfecta (tüm dişler sarı)
Mine hipoplazisi
Beyin ve serebellum hipoplazisi
Psikomotor gerilik
Epileptik ataklar
Konuşmada güçlük
Hipertoni
Spastik yapı
Ataksi
Zeka geriliği
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Haberlandt E, Svejda C, Felber S, et al. Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschutter-Tonz syndrome. American Journal of Medical Genetics A, 140A: 281-283, 2006
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Schossig A, Wolf N, Koch MJ, et al. Epileptische enzephalopathie und zahnschmelzdefekt (Kohlschutter-Tonz-Syndrom): Drei fallberichte und literaturubersicht. Medizinische Genetik, 4: 422-426, 2007
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Visinoni AF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. American Journal of Medical Genetics, 149A:1980–2002, 2009
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Schossig A, Wolf NI, Kapferer I, et al. Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome. European Journal of Medical Genetics, 55(5):319-322, 2012
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Schossig A, Wolf NI, Fischer C, et al. Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. American Journal of Human Genetics, 90(4):701-717, 2012
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Tucci A, Kara E, Schossig A, et al. Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Human Mutation, 34(2):296-300, 2013