A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome

Schossig, 2012, Mutations in ROGDI cause Kohlschütter-Tönz syndrome, Am J Hum Genet, 90, 701, 10.1016/j.ajhg.2012.02.012

Mory, 2012, A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome, Am J Hum Genet, 90, 708, 10.1016/j.ajhg.2012.03.005

Christodoulou, 1988, A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features, J Med Genet, 25, 827, 10.1136/jmg.25.12.827

Zlotogora, 1993, Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta, Am J Med Genet, 46, 453, 10.1002/ajmg.1320460422

Wygold, 1996, Kohlschütter syndrome—an example of a rare progressive neuroectodermal disease. Case report and review of the literature, Klin Padiatr, 208, 271, 10.1055/s-2008-1046481

Haberlandt, 2006, Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome, Am J Med Genet A, 140, 281, 10.1002/ajmg.a.31071

González-Arriagada, 2013, Kohlschütter-Tönz syndrome—report of an additional case, J Clin Exp Dent, 5, e108, 10.4317/jced.51018

Tucci, 2013, Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity, Hum Mutat, 34, 296, 10.1002/humu.22241

Aswath, 2014, Heterozygous Ile453 Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome, Eur J Dent, 8, 79, 10.4103/1305-7456.126250

Huckert, 2014, A novel mutation in the ROGDI gene in a patient with Kohlschütter-Tönz syndrome, Mol Syndromol, 5, 293, 10.1159/000366252

Schossig, 2017, SLC13 A5 is the second gene associated with Kohlschütter-Tönz syndrome, J Med Genet, 1, 54, 10.1136/jmedgenet-2016-103988