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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Detalhes bibliográficos
Publicado no:Bone Rep
Main Authors: Dessay, Mariam, Jobin Gervais, François, Simonyan, David, Samson, Andréanne, Gleeton, Guylaine, Gagnon, Edith, Albert, Caroline, Brown, Jacques P., Michou, Laëtitia
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7522747/
https://ncbi.nlm.nih.gov/pubmed/33015249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bonr.2020.100717
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