Congenital nephrotic syndrome with a novel NPHS 1 mutation

• Published in: Pediatrics international Vol. 58; no. 11; pp. 1211 - 1215
• Main Authors: Yoshizawa, Chikage, Kobayashi, Yasuko, Ikeuchi, Yuka, Tashiro, Masahiko, Kakegawa, Satoko, Watanabe, Toshio, Goto, Yoshimitsu, Nakanishi, Koichi, Yoshikawa, Norishige, Arakawa, Hirokazu
• Format: Journal Article
• Language: English
• Published: 01.11.2016

Abstract Congenital nephrotic syndrome of the Finnish type ( CNF ) is a rare autosomal recessive disorder. The incidence of CNF is relatively high in Finland but considerably lower in other countries. We encountered a male newborn with CNF , associated with compound heterozygous mutations in nephros...