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

• Main Authors: Yuanyuan Xu (Author), Chao Dai (Author), Jing He (Author), Yaping Liang (Author), Ying Zhu (Author), Fang Deng (Author), Chang Wang (Author), Danqun Jin (Author)
• Format: Book
• Published: BMC, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: 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...