Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103902
Abstract: Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare form of skeletal dysplasia characterized by progressive bone resorption, in the carpal and tarsal bones. Patients may develop chronic kidney disease, which eventually advances to end-stage renal… read more here.
Keywords: carpotarsal osteolysis; osteolysis syndrome; novel mutation; disease ... See more keywords
An unusual manifestation in a pediatric patient with MAFB mutation: Sacroiliitis in multicentric carpotarsal osteolysis syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "International journal of rheumatic diseases"
DOI: 10.1111/1756-185x.14700
Abstract: Multicentric carpotarsal osteolysis (MCTO) syndrome, is typically characterized by progressive bone resorption in especially carpal and tarsal bones, in addition to abnormal facial appearance and proteinuria. This disorder is caused by monoallelic pathogenic MAFB mutations,… read more here.
Keywords: pediatric patient; carpotarsal osteolysis; sacroiliitis; multicentric carpotarsal ... See more keywords
AB1045 MULTICENTRIC CARPOTARSAL OSTEOLYSIS (MCTO) IN PRACTICE OF PEDIATRIC RHEUMATOLOGIST: DIFFERENTIAL DIAGNOSIS WITH JUVENILE IDIOPATHIC ARTHRITIS
Sign Up to like & getrecommendations! Published in 2019 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2019-eular.4661
Abstract: Background Rare genetic pathologies involving the musculoskeletal system can be erroneously misdiagnosed as juvenile idiopathic arthritis (JIA). Idiopathic multicentric carpotarsal osteolysis (MCTO) is a congenital disease, liked to MAFB-gene mutation, described in 2012. MCTO is… read more here.
Keywords: mcto; juvenile idiopathic; carpotarsal osteolysis; idiopathic arthritis ... See more keywords