Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

Kohlschütter–Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by amelogenesis imperfecta, psychomotor delay or regression and seizures starting early in childhood. KTS was established as a distinct clinical entity after the first report by Kohlschütter in 1974, and to date, o...

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Main Authors: Tucci, Arianna, Kara, Eleanna, Schossig, Anna, Wolf, Nicole I., Plagnol, Vincent, Fawcett, Katherine, Paisán-Ruiz, Coro, Moore, Matthew, Hernandez, Dena, Musumeci, Sebastiano, Tennison, Michael, Hennekam, Raoul, Palmeri, Silvia, Malandrini, Alessandro, Raskin, Salmo, Donnai, Dian, Hennig, Corina, Tzschach, Andreas, Hordijk, Roel, Bast, Thomas, Wimmer, Katharina, Lo, Chien-Ning, Shorvon, Simon, Mefford, Heather, Eichler, Evan E., Hall, Roger, Hayes, Ian, Hardy, John, Singleton, Andrew, Zschocke, Johannes, Houlden, Henry
Formato: Artigo
Idioma:Inglês
Publicado: 2012
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3902979/
https://ncbi.nlm.nih.gov/pubmed/23086778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22241
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