@article{article, title  = {{A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly}},

 url = {{https://eprints.whiterose.ac.uk/105483/ }},

 year = {{2016}},

 month = {{12}},

 author = {{Marshall C and Lopez J and Crookes L and Pollitt RC and Balasubramanian M}},

 doi = {{10.1016/j.gene.2016.09.035}},

 volume = {{595}},

 journal = {{Gene}},

 issue = {{1}},

 pages = {{49-52}},

 note = {{Accessed on 2024/12/22}}}