Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation

ASXL1 (additional sex combs–like 1) plays key roles in epigenetic regulation of early developmental gene expression. De novo protein-truncating mutations in ASXL1 cause Bohring-Opitz syndrome (BOS; OMIM #605039), a rare neurodevelopmental condition characterized by severe intellectual disabilities,...

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Detalles Bibliográficos
Autores principales: Lin, Isabella, Wei, Angela, Awamleh, Zain, Singh, Meghna, Ning, Aileen, Herrera, Analeyla, Russell, Bianca E., Weksberg, Rosanna, Arboleda, Valerie A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10322691/
https://www.ncbi.nlm.nih.gov/pubmed/37053013
http://dx.doi.org/10.1172/jci.insight.167744

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10322691/
https://www.ncbi.nlm.nih.gov/pubmed/37053013
http://dx.doi.org/10.1172/jci.insight.167744

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