Associated Papers
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.
Mancini M et al.
Calcified Tissue International, 2024
PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.
Costa A et al.
Calcified Tissue International, 2024
Identification of a novel splicing mutation and genotype-phenotype correlations in rare PLS3-related childhood-onset osteoporosis.
Wu Z et al.
Orphanet Journal of Rare Diseases, 2022
A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.
Hu J et al.
Molecular Genetics & Genomic Medicine, 2020
A novel nonsense variant in PLS3 causes X-linked osteoporosis in a Chinese family.
Wang L et al.
Annals of Human Genetics, 2020
Plastin 3 in X-Linked Osteoporosis: Imbalance of Ca2+-Dependent Regulation Is Equivalent to Protein Loss.
Schwebach CL et al.
Frontiers in Cell and Developmental Biology, 2020
Functional analysis of p.Ala253_Leu254insAsn mutation in PLS3 responsible for X-linked osteoporosis.
Wang L et al.
Clinical Genetics, 2018
Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18.
Chen T et al.
International Journal of Endocrinology, 2018
A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid.
Lv F et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017
Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics.
Fahiminiya S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014
PLS3 mutations in X-linked osteoporosis with fractures.
van Dijk FS et al.
The New England Journal of Medicine, 2013