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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Bibliographic Details
Published in: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
Language:Inglês
Published: S. Karger AG 2014
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Short Report
Online Access: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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