Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Congenital nephrotic syndrome with a novel NPHS1 mutation.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Nov 2016

Yoshizawa Chikage, Kobayashi Yasuko, Ikeuchi Yuka, Tashiro Masahiko, Kakegawa Satoko, Watanabe Toshio, Goto Yoshimitsu, Nakanishi Koichi, Yoshikawa Norishige, Arakawa Hirokazu

Abstract excerpt

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 nephrosis 1, congenital, Finnish type (NPHS1). The patient was admitted to hospital as a preterm infant. Physical and laboratory...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to NPHS1 gene

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Infant, Newborn

Share to Membrane Proteins

Share to Mutation

Share to Nephrotic Syndrome

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 27882743
DOI: 10.1111/ped.13118

Genes

NPHS1

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital nephrotic syndrome with a novel NPHS1 mutation.PMID 27882743Read ↗

Three Novel Heterozygous Mutations of NPHS1 Gene Causing Infants with Congenital Nephrotic Syndrome: Two Chinese (Han) Cases.Semantic proximity Read ↗

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.Semantic proximity Read ↗

Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.Semantic proximity Read ↗

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.Semantic proximity Read ↗

A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant.Semantic proximity Read ↗

A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report.Semantic proximity Read ↗

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

Novel NPHS1 gene mutation in an Iranian patient with congenital nephrotic syndrome of the Finnish type.Semantic proximity Read ↗

Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.Semantic proximity Read ↗

Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.Semantic proximity Read ↗

NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.Semantic proximity Read ↗

[A Case of Congenital Nephrotic Syndrome of the Finnish Type].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.