A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the ROGDI 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....

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Syndromol
Prif Awduron: Huckert, Mathilde, Mecili, Helen, Laugel-Haushalter, Virginie, Stoetzel, Corinne, Muller, Jean, Flori, Elisabeth, Laugel, Vincent, Manière, Marie-Cécile, Dollfus, Hélène, Bloch-Zupan, Agnès
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: S. Karger AG 2014
Pynciau:
Short Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4281576/
https://ncbi.nlm.nih.gov/pubmed/25565929
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000366252
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