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[Analysis of a sib-pair with Finnish type congenital nephrotic syndrome due to variant of NPHS1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2020

Liu Zhufeng, Wang Wenhong, Zhang Xuan, Fan Shuying, Liu Yan, Liu Yan

Abstract excerpt

OBJECTIVE: To detect genetic variant in a sib-pair with Finnish type congenital nephrotic syndrome (CNF). METHODS: Clinical data of the sib-pair was reviewed. Coding regions of the NPHS1 gene was analyzed for the sib-pair and both parents. RESULTS: The sister and brother respectively developed severe proteinuria 1 month and 28 days after birth, in addition with low serum albumin, hypercholesterolemia and severe...

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Identifiers

PMID: 33306827
DOI: 10.3760/cma.j.cn511374-20200116-00034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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