Associated Papers
A Missense Mutation in Close Proximity of ALS-linked PFN1 Mutations Causes Only Early-onset Paget Disease of Bone.
Weng R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Update on the pathogenesis and genetics of Paget's disease of bone.
Gennari L et al.
Frontiers in Cell and Developmental Biology, 2022
Mutations in Profilin 1 Cause Early-Onset Paget's Disease of Bone With Giant Cell Tumors.
Wei Z et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021
Mutation of PFN1 Gene in an Early Onset, Polyostotic Paget-like Disease.
Merlotti D et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone.
Scotto di Carlo F et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
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