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

Progressive pseudorheumatoid dysplasia involving a novel CCN6 mutation: a case report.

Frontiers in immunology - 1 Jan 2024

Li Yu, Huang Zhengping, Yan Yun, Guo Feng, Wei Gang, Wang Yue, Xie Yu

Abstract excerpt

This study aims to report a case of progressive pseudorheumatoid dysplasia (PPRD) with two kinds of cellular communication network factor 6 (CCN6) gene mutation. In this paper, the clinical profile and the process of diagnosis were analyzed, and the related literature was reviewed. A 15-year-old boy, who developed progressive ankle and hip joint pain and enlargement with spine involvement, was diagnosed with...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Genetic Predisposition to Disease
Share to Joint Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 39539552
DOI: 10.3389/fimmu.2024.1445420
PMCID: PMC11557389

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Progressive pseudorheumatoid dysplasia involving a novel CCN6 mutation: a case report.PMID 39539552Read ↗

Delayed-onset progressive pseudorheumatoid dysplasia with secondary synovial chondromatosis.Semantic proximity Read ↗

A Retrospective Study of Nine Patients with Progressive Pseudorheumatoid Dysplasia: To Explore Early Diagnosis and Further TreatmentSemantic proximity Read ↗

First copy number variant in trans with single nucleotide variant in CCN6 causing progressive pseudorheumatoid dysplasia revealed by genome sequencing and deep phenotyping in monozygotic twins.Semantic proximity Read ↗

CCN6 mutation detection in Chinese patients with progressive pseudo-rheumatoid dysplasia and identification of four novel mutations.Semantic proximity Read ↗

Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.Semantic proximity Read ↗

Analysis of CCN6 in the Context of Human Health and Disease: Current Insights and Unexplored Frontiers.Semantic proximity Read ↗

Systematical analysis of nine Chinese patients with progressive pseudorheumatoid dysplasia and assessment of calcitriol treatmentSemantic proximity Read ↗

Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies.Semantic proximity Read ↗

Progressive pseudorheumatoid dysplasia involving a novel WISP3 mutation and sacroiliac and hip arthritis: A case report and literature review.Semantic proximity Read ↗

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.Semantic proximity Read ↗

Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review.Semantic proximity Read ↗

CACP Syndrome: A Rare Non-inflammatory Arthropathy Often Misdiagnosed as Juvenile Idiopathic Arthritis – Clinical Insights and Diagnostic ApproachSemantic proximity Read ↗

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