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: a Contemporary Perspective on the Unique Skeletal Phenotype.
Ma NS et al.
Current Osteoporosis Reports, 2023
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
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
Select a paper to view details