Article
Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants.
American journal of medical genetics. Part A - 1 Apr 2022
Liepina Lelde, Kalnina Marija Luize, Micule Ieva, Gailite Linda, Rots Dmitrijs, Kalnina Julija, Strautmanis Jurgis, Celmina Marta
Abstract excerpt
Kohlschütter-Tönz syndrome (KTS) is a rare, autosomal recessive syndrome characterized by a triad of epilepsy, amelogenesis imperfecta and severe global developmental delay. It was first described in a Swiss family in 1974 by Alfried Kohlschütter and Otmar Tönz. It is caused by pathogenic variants in the ROGDI gene. To the best of our knowledge, there are currently 43 patients with a confirmed ROGDI gene...
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