Familial Paget's disease in The Netherlands: Occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations

Abstract

Our data provide further evidence of a causal role of SQSTM1 gene mutations in the pathogenesis of Paget's disease and allow the design of a strategy based on measurements of serum AP activity and age for investigating asymptomatic relatives of patients with familial Paget's disease of bone.