Associated Papers
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
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
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
Schossig A et al.
American Journal of Human Genetics, 2012
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