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A low-grade astrocytoma in a sixteen-year-old boy with a 7q11.22 deletion.
Clinical Case Reports 2018 Februrary
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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