Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome

Germline pathogenic variants in DNMT3A were recently described in patients with overgrowth, obesity, behavioral, and learning difficulties (DNMT3A Overgrowth Syndrome/DOS). Somatic mutations in the DNMT3A gene are also the most common cause of clonal hematopoiesis, and can initiate acute myeloid leu...

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Detalles Bibliográficos
Autores principales: Smith, Amanda M., LaValle, Taylor A., Shinawi, Marwan, Ramakrishnan, Sai M., Abel, Haley J., Hill, Cheryl A., Kirkland, Nicole M., Rettig, Michael P., Helton, Nichole M., Heath, Sharon E., Ferraro, Francesca, Chen, David Y., Adak, Sangeeta, Semenkovich, Clay F., Christian, Diana L., Martin, Jenna R., Gabel, Harrison W., Miller, Christopher A., Ley, Timothy J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8316576/
https://www.ncbi.nlm.nih.gov/pubmed/34315901
http://dx.doi.org/10.1038/s41467-021-24800-7

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