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...

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Bibliographic Details
Main Authors: M.A. Sultana, N.J. Pavlos, Lynley Ward, J.P. Walsh, S.L. Rea
Format: Article
Language:English
Published: Elsevier 2019-06-01
Series:Bone Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S235218721930004X