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Article

Identification of a MAFB mutation in a patient with multicentric carpotarsal osteolysis.

Swiss medical weekly - 1 Jan 2017

Zhuang Lei, Adler Sabine, Aeberli Daniel, Villiger Peter M, Trueb Beat

Abstract excerpt

Multicentric carpotarsal osteolysis (MCTO) is an autosomal dominant disease of the skeleton characterised by progressive destruction of carpal and tarsal bones. Recently, it has been demonstrated that this disease is caused by heterozygous mutations in the gene for the transcriptional repressor MAFB. We analysed genomic DNA and RNA from leucocytes of a female patient diagnosed with MCTO. We identified the...

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Source

Identifiers

PMID: 29120020
DOI: 10.4414/smw.2017.14529

Genes

MAFB

Variants

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.

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Identification of a MAFB mutation in a patient with multicentric carpotarsal osteolysis.PMID 29120020Read ↗

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Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.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 with variants of MAFB gene: a case report and literature review.Semantic proximity Read ↗

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