@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 2024/12/22}}}