@inproceedings{inproceedings, title  = {{Report of a novel variant causing a schneckenbecken-like dysplasia}},

 publisher = {{Springer Nature}},

 url = {{https://eprints.whiterose.ac.uk/152821/ }},

 year = {{2019}},

 month = {{10}},

 author = {{Quarrell OW and Rautengarten C and Stals K and Caswell R and De Franco E and Baple E and Burgess N and Jokhi R and Hazelwood JL and Offiah AC and Ebert B et al}},

 doi = {{10.1038/s41431-019-0494-2}},

 volume = {{27}},

 journal = {{European Journal of Human Genetics}},

 pages = {{1298-1299}},

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