Associated Papers
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1
A De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature.
Lu Y et al.
Ajp Reports, 2024
Application of whole exome sequencing in fetal cases with skeletal abnormalities.
Cao J et al.
Heliyon, 2022
Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.
Xi L et al.
Journal of Bone and Mineral Metabolism, 2021
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