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
Type XV osteogenesis imperfecta: A novel mutation in the WNT1 gene, c.620G >A (p.R207H), is associated with an inner ear deformity.
Zhu J et al.
Intractable & Rare Diseases Research, 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
The role of WNT1 mutant variant (WNT1c.677C>T ) in osteogenesis imperfecta.
Zhang B et al.
Annals of Human Genetics, 2020
Genetic modifiers of long-term survival in sickle cell anemia.
Wonkam A et al.
Clinical and Translational Medicine, 2020
32898326 (PubMed )
Supplement: CTM2-10-e152-s001.pdf
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.
Li L et al.
Human Mutation, 2019
[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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