Analysis of X‐inactivation status in a Rett syndrome natural history study cohort

BACKGROUND: Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the MECP2 gene is subject to X‐chromosome inactivation (XCI), factors including MECP2 genotypic variation, tissue differences in XCI, and skewing of XCI all likely contribute to t...

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Detalles Bibliográficos
Autores principales: Fang, Xiaolan, Butler, Kameryn M., Abidi, Fatima, Gass, Jennifer, Beisang, Arthur, Feyma, Timothy, Ryther, Robin C., Standridge, Shannon, Heydemann, Peter, Jones, Mary, Haas, Richard, Lieberman, David N, Marsh, Eric D., Benke, Tim A., Skinner, Steve, Neul, Jeffrey L., Percy, Alan K., Friez, Michael J., Caylor, Raymond C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034674/
https://www.ncbi.nlm.nih.gov/pubmed/35318820
http://dx.doi.org/10.1002/mgg3.1917

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