Associated Papers
Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta.
Tan Z et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients.
Chen P et al.
Orphanet Journal of Rare Diseases, 2023
37730650 (PubMed )
Supplement: 13023_2023_2906_MOESM2_ESM.xlsx › Sheet1
Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants in a Large Cohort of Patients With OI/Osteoporosis.
Hu J et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.
Chen P et al.
Orphanet Journal of Rare Diseases, 2022
35765008 (PubMed )
Supplement: 13023_2022_2394_MOESM3_ESM.pdf
Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene.
Campopiano MC et al.
Frontiers in Endocrinology, 2022
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.
Li L et al.
Human Mutation, 2019
Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization.
Lu Y et al.
Bone, 2018
[Spectrum of COL1A1/2 mutations and gene diagnosis in Chinese patients with osteogenesis imperfecta].
Zhao X et al.
Zhonghua Yi Xue Za Zhi, 2015
Select a paper to view details