Associated Papers
A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review.
He D et al.
Human Genomics, 2025
40887625 (PubMed )
Supplement: 40246_2025_816_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
Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen.
Chen P et al.
Frontiers in Genetics, 2022
35154279 (PubMed )
Supplement: Table1.XLSX › 187_patients
COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report.
Dirani M et al.
Frontiers in Surgery, 2022
36338653 (PubMed )
Supplement: Table1.xlsx › Sup_tab1
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
Lee KS et al.
Human Mutation, 2006
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