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Article

[A Case of Congenital Nephrotic Syndrome of the Finnish Type].

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition - 1 Nov 2020

Zhou Yu, Chen Qiong, Huang Xi, Yang Li-Ming, Chen Juan

Abstract excerpt

A 5 +-day-old male patient was hospitalized due to a significant increase of urine protein for 5 + d. A 36 +4 weeks preterm male infant was found with III° polluted amniotic fluid and excessive placenta, presented with proteinuria, hypoproteinemia, and progressive edema after birth. Two heterozygous mutations of NPHS1 gene, c.3325C>T (p.Arg1109*) and c.2479C>T (p.Arg827*), were found through the whole exon gene...

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Source

Identifiers

PMID: 33236617
DOI: 10.12182/20200760109

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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