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Article

Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.

Current osteoporosis reports - 1 Feb 2023

Ma Nina S, Mumm S, Takahashi S, Levine M A

Abstract excerpt

PURPOSE OF REVIEW: Multicentric carpotarsal osteolysis (MCTO) is an ultra-rare disorder characterized by osteolysis of the carpal and tarsal bones, subtle craniofacial deformities, and nephropathy. The molecular pathways underlying the pathophysiology are not well understood. RECENT FINDINGS: MCTO is caused by heterozygous mutations in MAFB, which encodes the widely expressed transcription factor MafB. All MAFB...

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Source

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Identifiers

PMID: 36477366
DOI: 10.1007/s11914-022-00762-7
PMCID: PMC10393442

Genes

MAFB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.PMID 36477366Read ↗

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

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

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

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 ↗

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

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

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

Fibrous dysplasia/McCune-Albright syndrome: state-of-the-art advances, pathogenesis, and basic/translational researchSemantic proximity Read ↗

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