K

 

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

 

  • 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 

  • 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

  • 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

  • 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

  • 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

  • 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