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....

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Bibliografiske detaljer
Udgivet i:Mol Syndromol
Main Authors: Huckert, Mathilde, Mecili, Helen, Laugel-Haushalter, Virginie, Stoetzel, Corinne, Muller, Jean, Flori, Elisabeth, Laugel, Vincent, Manière, Marie-Cécile, Dollfus, Hélène, Bloch-Zupan, Agnès
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2014
Fag:
Short Report
Online adgang: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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