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

Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2021

Teng Hua, Liang Chen, Liang Desheng, Li Zhuo, Wu Lingqian

Abstract excerpt

Galloway-Mowat syndrome (GAMOS) is an extremely rare clinically heterogeneous autosomal or X-linked inherited recessive disease characterized by early-onset steroid-resistant nephrotic syndrome (SRNS), microcephaly and neurological impairment. In this study, two siblings mainly presenting with decreased head circumference, hypotonia, gross motor delay, and dysmorphic features were initially detected without...

Read the complete abstract on PubMed

Topics

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

Share to Amyloidosis: Diagnosis, Treatment, Outcomes
Share to Ion Transport and Channel Regulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Metalloendopeptidases

Share to Microcephaly

Share to Mutation

Share to Nephrotic Syndrome

Share to Renal Diseases and Glomerulopathies

Source

Identifiers

PMID: 34666032
DOI: 10.1016/j.cca.2021.10.012

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.PMID 34666032Read ↗

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literatureSemantic proximity Read ↗

A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.Semantic proximity Read ↗

Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3.Semantic proximity Read ↗

Homozygous splicing mutation in NUP13 3 causes Galloway–Mowat syndromeSemantic proximity Read ↗

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.Semantic proximity Read ↗

Galloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrumSemantic proximity Read ↗

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotypeSemantic proximity Read ↗

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.Semantic proximity Read ↗

Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome.Semantic proximity Read ↗

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.Semantic proximity Read ↗

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.Semantic proximity Read ↗

A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.Semantic proximity Read ↗

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