Mutation of PFN1 Gene in an Early Onset, Polyostotic Paget-like Disease

Abstract excerpt

CONTEXT: Paget disease of bone (PDB) is a metabolic bone disease whose genetic cause remains unknown in up to 50% of familial patients. OBJECTIVE: Our aim was to investigate the underlying genetic defect in a large pedigree with a severe, early onset, autosomal dominant form of PDB across 3 generations. METHODS: Whole exome sequencing was performed in affected and unaffected family members, and then mutation...

Topics

Join the communities discussing this publication.

• Bone health and treatments
• Cancer and Skin Lesions