Attenuated clinical and osteoclastic phenotypes of Paget’s disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene

BACKGROUND: We identified two families with Paget's disease of bone (PDB) linked to the p.Pro392Leu mutation within the SQSTM1 gene displaying a possible digenism. This study aimed at identifying this second genetic variant cosegregating with the p.Pro392Leu mutation and at characterizing its i...

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Detalles Bibliográficos
Autores principales: Dessay, Mariam, Couture, Emile, Maaroufi, Halim, Fournier, Frédéric, Gagnon, Edith, Droit, Arnaud, Brown, Jacques P., Michou, Laëtitia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895793/
https://www.ncbi.nlm.nih.gov/pubmed/35241069
http://dx.doi.org/10.1186/s12920-022-01198-9

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