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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Udgivet i:Nat Commun
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2021
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8316576/
https://ncbi.nlm.nih.gov/pubmed/34315901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-021-24800-7
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