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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2014
Assuntos:
Short Report
Acesso em linha: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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