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Fig. 2 | BMC Medical Genomics

Fig. 2

From: 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

Fig. 2

Impact on the clinical phenotype of Paget’s disease (PDB) of the SQSTM1 and the DOCK6 gene variants (number of affected bones, tALPs, age at PDB diagnosis). Data collection at baseline for forteen patients with PDB within the two families studied by whole exome sequencing. A Number of affected bones, B tALPs level, C age at diagnosis. *P = 0.035

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