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

Abstract excerpt

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 disease (ESRD). Both sporadic and familial cases of autosomal-dominant inheritance are reported in literature. Here, we report a case of a 10.5-year-old boy...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Heterozygote