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....

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Syndromol
Egile Nagusiak: Huckert, Mathilde, Mecili, Helen, Laugel-Haushalter, Virginie, Stoetzel, Corinne, Muller, Jean, Flori, Elisabeth, Laugel, Vincent, Manière, Marie-Cécile, Dollfus, Hélène, Bloch-Zupan, Agnès
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: S. Karger AG 2014
Gaiak:
Short Report
Sarrera elektronikoa: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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