@inproceedings{inproceedings, title = {{Report of a novel variant causing a schneckenbecken-like dysplasia}},
publisher = {{Springer Nature}},
url = {{http://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 2025/07/15}}}