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

Por Li, Liangliang, Yi, Zhi, Xi, Hongmin, Ma, Lili, Shao, Hui, Wang, Wenwen, Pan, Hong, Li, Miaomiao, Jiang, Hong
Publicado no Ital J Pediatr (2019)