@article{article, title = {{Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.}}, url = {{https://eprints.whiterose.ac.uk/105140/ }}, year = {{2016}}, month = {{8}}, author = {{Marshall CJ and Arundel P and Mushtaq T and Offiah AC and Pollitt RC and Bishop NJ and Balasubramanian M}}, doi = {{10.1002/ajmg.a.37943}}, journal = {{Am J Med Genet A}}, note = {{Accessed on 2025/04/12}}}