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When Rett syndrome is due to genes other than MECP2

Two individuals meeting diagnostic criteria for Rett syndrome (RTT) but lacking a mutation in MECP2, the gene predominantly associated with this disorder, were provided additional genetic testing. This testing revealed pathogenic mutations in a gene not previously associated with RTT, CTNNB1, mutati...

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Detalles Bibliográficos
Autores principales:	Percy, Alan K., Lane, Jane, Annese, Fran, Warren, Hannah, Skinner, Steven A., Neul, Jeffrey L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	IOS Press 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5900556/ https://www.ncbi.nlm.nih.gov/pubmed/29682453 http://dx.doi.org/10.3233/TRD-180021

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