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

Multicentric carpotarsal osteolysis syndrome with variants of MAFB gene: a case report and literature review.

Pediatric rheumatology online journal - 13 Mar 2024

Gao Xianfei, Fang Xiang, Huang Danping, Zhang Song, Zeng Huasong

Abstract excerpt

BACKGROUND: Multicentric carpotarsal osteolysis (MCTO) is a rare genetic disorder characterized by the progressive loss of bone in the hands, feet, and other skeletal structures. It presents with symptoms that may resemble those of juvenile idiopathic arthritis, making diagnosis challenging for clinicians. The identification of MAF BZIP Transcription Factor B (MAFB) mutations as significant contributors to MCTO...

Read the complete abstract on PubMed

Topics

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

Share to MafB Transcription Factor
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Osteolysis

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 38481224
DOI: 10.1186/s12969-024-00964-6
PMCID: PMC10935943

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

Multicentric carpotarsal osteolysis syndrome with variants of MAFB gene: a case report and literature review.PMID 38481224Read ↗

Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.Semantic proximity Read ↗

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.Semantic proximity Read ↗

A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course.Semantic proximity Read ↗

Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing.Semantic proximity Read ↗

An unusual manifestation in a pediatric patient with MAFB mutation: Sacroiliitis in multicentric carpotarsal osteolysis syndrome.Semantic proximity Read ↗

The identification of <i>MAFB</i> mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variabilitySemantic proximity Read ↗

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.Semantic proximity Read ↗

Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature ReviewSemantic proximity Read ↗

The Clinical Spectrum of McCune-Albright Syndrome and Its Management.Semantic proximity Read ↗

Zebrafish mafbb Mutants Display Osteoclast Over-Activation and Bone Deformity Resembling Osteolysis in MCTO Patients.Semantic proximity Read ↗

An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome.Semantic proximity Read ↗

Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient.Semantic proximity Read ↗

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