Background: RAR-related Orphan Receptor C (RORC) is a DNA-binding transcription factor and the key transcription factor responsible for differentiation of T helper 17 cells. The RORC gene plays a role in lymphoid organogenesis, thymopoiesis, and lymph node organogenesis. The aim of our study was to determine the possible role of RORC in the development of lymphatic system malformations by combining data from the scientific literature and next-generation sequencing of RORC in lymphedema patients negative for known causative genes.

中文翻译：

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RORC 基因在原发性和继发性淋巴水肿中的可能作用：两个罕见致病变异的文献和遗传研究回顾

背景： RAR 相关孤儿受体 C (RORC) 是一种 DNA 结合转录因子，是负责 T 辅助 17 细胞分化的关键转录因子。所述RORC基因在淋巴样器官，thymopoiesis，和淋巴结器官的作用。我们研究的目的是通过将科学文献中的数据和已知致病基因阴性的淋巴水肿患者的RORC新一代测序数据相结合，确定RORC在淋巴系统畸形发展中的可能作用。