We report a patient with developmental delay due to germline AUTS2 mutation who developed a low-grade astrocytoma. While the contribution of this mutation to the pathogenesis of the tumor is not known at this time, a role of AUTS2 in deregulation of PRC1 can be a part in tumorigenesis of a brain tumor.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799647 | PMC |
| http://dx.doi.org/10.1002/ccr3.1312 | DOI Listing |
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