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Article

Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.

Journal of Korean medical science - 1 Jan 2009

Lee Beom Hee, Ahn Yo Han, Choi Hyun Jin, Kang Hee Kyung, Kim Sung-Do, Cho Byoung-Soo, Moon Kyung Chul, Ha Il Soo, Cheong Hae Il, Choi Yong

Abstract excerpt

Congenital nephrotic syndrome is defined as nephrotic syndrome which manifests in utero or during the first 3 months of life. The prototype of congenital nephrotic syndrome is congenital nephrotic syndrome of Finnish type (CNF, OMIM #602716), which is caused by loss-of-function mutations of the nephrin gene (NPHS1). There have been few clinical case reports of CNF in Korea, but none of which was confirmed by...

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Identifiers

PMID: 19194555
DOI: 10.3346/jkms.2009.24.S1.S210
PMCID: PMC2633182

Genes

NPHS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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