@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 = {{}}, 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 2025/07/17}}}