A Novel Mutation in the \textbf\textitROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
A Novel Mutation in the \textbf\textitROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
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Publisher
Karger
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Language
English
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Publisher
Karger
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Contents
Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the \textitROGDI gene. This syndrome is characterized by epilepsy, psychomotor regression and amelogenesis imperfecta. In this paper, we report a case of a 13-year-old Malian girl presenting with this rare disease. By genetic analysis, we identified a novel\...
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Full title
A Novel Mutation in the \textbf\textitROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
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TN_cdi_hal_primary_oai_HAL_hal_04985613v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04985613v1
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ISSN
1661-8769
E-ISSN
1661-8777
DOI
10.1159/000366252
