Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation

• Main Authors: Liangliang Li (Author), Zhi Yi (Author), Hongmin Xi (Author), Lili Ma (Author), Hui Shao (Author), Wenwen Wang (Author), Hong Pan (Author), Miaomiao Li (Author), Hong Jiang (Author)
• Format: Book
• Published: BMC, 2019-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Congenital nephrotic syndrome (CNS), which is defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys. 22q11.2 duplication syndrome was a chromosomal di...