@article{article, title = {{A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia}}, publisher = {{Oxford University Press (OUP)}}, url = {{}}, year = {{2019}}, month = {{11}}, author = {{Rautengarten C and Quarrell OW and Stals K and Caswell R and De Franco E and Baple E and Burgess N and Jokhi R and Heazlewood JL and Offiah AC and Ebert B et al}}, doi = {{10.1093/hmg/ddz200}}, volume = {{28}}, journal = {{Human Molecular Genetics}}, issue = {{21}}, pages = {{3543-3551}}, note = {{Accessed on 2025/11/11}}}