Targeted sequencing of DCSTAMP in familial Paget's disease of bone
Paget's disease of bone (PDB) has a strong genetic component. Variants in SQSTM1 are found in up to 40% of patients with a family history of the disease, where a pattern of autosomal dominance with incomplete penetrance is apparent. By contrast, SQSTM1 variants are only found in up to 10% of pa...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2019-06-01
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Series: | Bone Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S235218721930004X |