Novel TBC1D8B variant causes neonatal nephrotic syndrome combined with acute kidney injury

• المؤلفون الرئيسيون: Yuanyuan Xu (مؤلف), Chao Dai (مؤلف), Jing He (مؤلف), Yaping Liang (مؤلف), Ying Zhu (مؤلف), Fang Deng (مؤلف), Chang Wang (مؤلف), Danqun Jin (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2024-10-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Abstract Background Nephrotic syndrome (NPHS), characterized by proteinuria, hypoalbuminemia, and edema, can be caused by genetic variations. TBC1D8B was recently discovered as a novel disease-causing gene for X-linked NPHS. With only a few reported cases, the clinical manifestations associated with...