Article
Evolution of Paget's disease of bone in adults inheriting SQSTM1 mutations.
Clinical endocrinology - 1 Sept 2015
Cundy Tim, Rutland Michael D, Naot Dorit, Bolland Mark
Abstract excerpt
CONTEXT: The cause of Paget's disease of bone (PDB) is unknown, but genetic factors, particularly SQSTM1 mutations, and environmental factors are important. OBJECTIVE: To investigate the development of PDB in asymptomatic relatives carrying SQSTM1 mutations to determine whether a secular trend towards a less severe phenotype is evident, and to estimate prospectively the rate at which PDB emerged in this...
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