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
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
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
30405713 (PubMed )
Supplement: 8953217.f1.zip › mat.8953217.v2__1_.docx
PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.
Kämpe AJ 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
28748388 (PubMed )
Supplement: 198_2017_4150_MOESM1_ESM.docx
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
PLS3 mutations in X-linked osteoporosis with fractures.
van Dijk FS et al.
The New England Journal of Medicine, 2013
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