@article{article, title  = {{SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile}},

 publisher = {{Elsevier BV}},

 url = {{https://eprints.whiterose.ac.uk/190170/ }},

 year = {{2022}},

 month = {{3}},

 author = {{Al-Jawahiri R and Foroutan A and Kerkhof J and McConkey H and Levy M and Haghshenas S and Rooney K and Turner J and Shears D and Holder M and Lefroy H et al}},

 doi = {{10.1016/j.gim.2022.02.013}},

 volume = {{24}},

 journal = {{Genetics in Medicine}},

 issue = {{6}},

 pages = {{1261-1273}},

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