Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using a combination of auto...

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Xehetasun bibliografikoak
Egile Nagusiak: Schossig, Anna, Wolf, Nicole I., Fischer, Christine, Fischer, Maria, Stocker, Gernot, Pabinger, Stephan, Dander, Andreas, Steiner, Bernhard, Tönz, Otmar, Kotzot, Dieter, Haberlandt, Edda, Amberger, Albert, Burwinkel, Barbara, Wimmer, Katharina, Fauth, Christine, Grond-Ginsbach, Caspar, Koch, Martin J., Deichmann, Annette, von Kalle, Christof, Bartram, Claus R., Kohlschütter, Alfried, Trajanoski, Zlatko, Zschocke, Johannes
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2012
Gaiak:
Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3322220/
https://ncbi.nlm.nih.gov/pubmed/22424600
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.02.012
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