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
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
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
A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case.
Närhi A et al.
American Journal of Medical Genetics. Part A, 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
34722426 (PubMed )
Supplement: Presentation_1.pdf
A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome.
Upadia J et al.
Journal of Pediatric Genetics, 2018
Three cases of multicentric carpotarsal osteolysis syndrome: a case series.
Park PG et al.
Bmc Medical 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
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
An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome.
Dworschak GC et al.
International Journal of Molecular Medicine, 2013
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