Associated Papers
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
Multicentric carpotarsal osteolysis syndrome with variants of MAFB gene: a case report and literature review.
Gao X et al.
Pediatric Rheumatology Online Journal, 2024
An unusual manifestation in a pediatric patient with MAFB mutation: Sacroiliitis in multicentric carpotarsal osteolysis syndrome.
Kisla Ekinci RM et al.
International Journal of Rheumatic Diseases, 2023
Denosumab Treatment Does Not Halt Progression of Bone Lesions in Multicentric Carpotarsal Osteolysis Syndrome.
Lerman MA et al.
Jbmr Plus, 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 Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a MAFB Missense Variant and Natural History of the Disease.
Chen K et al.
Molecular Syndromology, 2022
Multicentric carpotarsal osteolysis syndrome (MCTO) with generalized high bone turnover and high serum RANKL: Response to denosumab.
Regev R et al.
Bone Reports, 2021
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
A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome.
Upadia J et al.
Journal of Pediatric Genetics, 2018
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
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
Zankl A et al.
American Journal of Human Genetics, 2012
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