Early-onset juvenile Paget disease associated with a homozygous intronic TNFRSF11B variant: a 2-year follow-up
Abstract Objectives Juvenile Paget disease (JPD) is an ultra-rare inherited metabolic bone disorder characterized by excessive skeletal turnover secondary to osteoprotegerin (OPG) dysfunction. Early diagnosis is important because progressive skeletal and extraskeletal complications may develop during infancy and childh...