Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

Anna Schossig, Nicole I. Wolf, Christine Fischer et al. · The American Journal of Human Genetics · 2012 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Familial epilepsy and yellow teeth--a disease of the CNS associated with enamel hypoplasia.

Alfried Kohlschütter, D Chappuis, C. Meier et al. · PubMed · 1974 · 42 citations

Medicine, Neurology, Neuroscience +15

A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome

Adi Mory, Efrat Dagan, Barbara Illi et al. · The American Journal of Human Genetics · 2012 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Kohlschütter-Tönz Syndrome: Mutations in<i>ROGDI</i>and Evidence of Genetic Heterogeneity

Arianna Tucci, Eleanna Kara, Anna Schossig et al. · Human Mutation · 2012 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.

John Christodoulou, Roger K. Hall, Samuel Menahem et al. · Journal of Medical Genetics · 1988 · 29 citations · Full text

Medicine, Genetics, Molecular Genetics +17