Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing.
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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