Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

Rett syndrome (OMIM#312750) is a monogenic disorder that may manifest as a large variety of phenotypes ranging from very severe to mild disease. Since there is a weak correlation between the mutation type in the Xq28 disease-gene MECP2/X-inactivation status and phenotypic variability, we used this d...

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Detalles Bibliográficos
Autores principales: Grillo, Elisa, Lo Rizzo, Caterina, Bianciardi, Laura, Bizzarri, Veronica, Baldassarri, Margherita, Spiga, Ottavia, Furini, Simone, De Felice, Claudio, Signorini, Cinzia, Leoncini, Silvia, Pecorelli, Alessandra, Ciccoli, Lucia, Mencarelli, Maria Antonietta, Hayek, Joussef, Meloni, Ilaria, Ariani, Francesca, Mari, Francesca, Renieri, Alessandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3585308/
https://www.ncbi.nlm.nih.gov/pubmed/23468869
http://dx.doi.org/10.1371/journal.pone.0056599

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