In the field of cancer genomics, the broad availability of genetic information offered by next-
generation sequencing technologies and rapid growth in biomedical publication has led to …

Mendelian and complex genetic trait diseases continue to burden and affect society both
socially and economically. The lack of effective tests has hampered diagnosis thus, the …

Abstract Purpose of Review Multicentric carpotarsal osteolysis (MCTO) is an ultra-rare
disorder characterized by osteolysis of the carpal and tarsal bones, subtle craniofacial …

Here we report the use of denosumab, a monoclonal antibody against receptor activator of
nuclear factor κB ligand (RANKL), as monotherapy for multicentric carpotarsal osteolysis …

Multicentric carpo-tarsal osteolysis (MCTO) is a rare osteolysis syndrome mainly involving
carpal and tarsal bones usually presenting in early childhood. MCTO has autosomal …

Purpose Demonstrating the clinical utility of genetic testing is fundamental to clinical
adoption and reimbursement, but standardized definitions and measurement strategies for …

Multicentric carpo-tarsal osteolysis syndrome (MCTO) is a rare skeletal disorder commonly
caused by MAF bZIP transcription factor B (MAFB) mutation. Clinically, it is characterized by …

Abstract Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA) syndrome is a rare
genetic skeletal dysplasia. Its diagnosis can be deceptively similar to childhood-onset …

Multicentric carpotarsal osteolysis syndrome (MCTO; MIM# 166300) is a rare skeletal
disorder characterized by osteolysis affecting particularly the carpal, metacarpal, and tarsal …

Multicentric carpotarsal osteolysis (MCTO) is an autosomal dominant condition
characterized by carpal–tarsal abnormalities; over half of affected individuals also develop …