Associated Papers
Phenotypic and genetic characteristics of a Dutch cohort of patients with X-linked osteoporosis due to PLS3 genetic variants.
Zervou Z et al.
Jbmr Plus, 2025
40353206 (PubMed )
Supplement: supp_ziaf046.pdf
Bone microarchitecture and strength in men and women with PLS3 gene variants assessed with HR-pQCT.
Zervou Z et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
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
X-linked osteogenesis imperfecta accompanied by patent ductus arteriosus: a case with a novel splice variant in PLS3.
Qiu C et al.
World Journal of Pediatrics : Wjp, 2022
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
35752817 (PubMed )
Supplement: 13023_2022_2380_MOESM1_ESM.docx
A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.
Hu J et al.
Molecular Genetics & Genomic Medicine, 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
NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.
Cao YJ et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2019
A novel frameshift deletion in PLS3 causing severe primary osteoporosis.
Costantini A et al.
Journal of Human Genetics, 2018
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