Conditions / Genetic
Paget disease of bone 3
info ยท Genetic
A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35.
Signs and symptoms
- Bone pain
- Patchy osteosclerosis
- Elevated circulating alkaline phosphatase concentration
- Recurrent long bone fractures
- Osteosarcoma
- Osteolysis
- Hearing impairment
Also known as: Paget's disease of bone-3