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
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
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.
Li L et al.
Human Mutation, 2019
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
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
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