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

Internet

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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