Associated Papers
Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review.
Meng L et al.
Bmc Medical Genomics, 2023
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 2023
Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants.
Liepina L et al.
American Journal of Medical Genetics. Part A, 2022
A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome.
Aswath N et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2018
The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome.
Lee H et al.
Scientific Reports, 2017
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.
Huckert M et al.
Molecular Syndromology, 2014
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
Tucci A et al.
Human Mutation, 2013
Select a paper to view details