Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.S54W
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MAFB

NM_005461.5:p.S54W

Associated Papers

Multicentric carpo-tarsal osteolysis: the importance of imaging studies, genetic findings and clinical expertise in differential diagnosis and follow-up-a case report.

Grizzo FMF et al.

Skeletal Radiology, 2025

A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course.

Li JY et al.

American Journal of Medical Genetics. Part A, 2024

Exploring Large MAF Transcription Factors: Functions, Pathology, and Mouse Models with Point Mutations.

Fujino M et al.

Genes, 2023

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

Ma NS et al.

Current Osteoporosis Reports, 2023

Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review.

Drovandi S et al.

Journal of Clinical Medicine, 2022

35956038 (PubMed )
Supplement: jcm-11-04423-s001.zip › jcm-1819398-supplementary.pdf

Multicentric Carpo-Tarsal Osteolysis Syndrome Mimicking Juvenile Idiopathic Arthritis: Two Case Reports and Review of the Literature.

Wu J et al.

Frontiers in Pediatrics, 2021

34722426 (PubMed )
Supplement: Presentation_1.pdf

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

Zhuang L et al.

Swiss Medical Weekly, 2017

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

Mumm S et al.

American Journal of Medical Genetics. Part A, 2014

The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.

Mehawej C et al.

American Journal of Medical Genetics. Part A, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."