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Updated: Jul 27, 2025

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在SART3的变体导致一个结合体病变,以丸发育失败和神经元缺陷为特征

Katie L Ayers1,2, Stefanie Eggers3, Ben N Rollo4

  • 1The Murdoch Children's Research Institute, Melbourne, Australia. katie.ayers@mcri.edu.au.

Nature communications
|June 9, 2023
PubMed
概括

由T细胞3 (SART3) 识别的状细胞癌抗原的递归变异会导致INDYGON综合征,这是一种具有智力障碍,发育迟缓和淋巴腺变的疾病. 这一发现有助于诊断和改善受影响个体的结果.

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