Article
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.
PloS one - 1 Jan 2013
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
Abstract excerpt
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 disease as a model to unveil the complex nature of a monogenic disorder. Whole exome sequencing was used to analyze...
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