Clinical phenotype of adult offspring carriers of the p.Pro392Leu mutation within the SQSTM1 gene in Paget's disease of bone

Clinical phenotype of adult offspring carriers of the p.Pro392Leu mutation within the SQSTM1 gene in Paget's disease of bone

Paget's disease of bone (PDB) is a common chronic bone disorder. In the French-Canadian population, the p.Pro392Leu mutation within the SQSTM1 gene is involved in 46% of familial forms. In New Zealand, the emergence of PDB in offspring inheriting SQSTM1 mutations was reported to be delayed by a...

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Bibliographic Details
Main Authors: Mariam Dessay, François Jobin Gervais, David Simonyan, Andréanne Samson, Guylaine Gleeton, Edith Gagnon, Caroline Albert, Jacques P. Brown, Laëtitia Michou
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Bone Reports
Subjects:
Paget's disease of bone
SQSTM1 gene
p.Pro392Leu mutation
Clinical phenotype
Bone scan
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187220304770

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http://www.sciencedirect.com/science/article/pii/S2352187220304770

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