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Article

[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Nov 2005

Shi Yan, Ding Jie, Liu Jing-cheng, Wang Hua, Bu Ding-fang

Abstract excerpt

OBJECTIVE: Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria or nephrotic syndrome occurring before 3 months of age. It is characterized by early onset, resistance to steroid therapy and progressing to end-stage renal disease (ESRD). In recent years, several genes associated with CNS have been identified, such as NPHS1, NPHS2 and WT1. The mutations of these genes have been identified in the...

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Source

Identifiers

PMID: 16316524

Genes

NPHS1
NPHS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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