@article{article, title  = {{Clinical and genetic characterization of a progressive RBL2 associated neurodevelopmental disorder}},

 publisher = {{Oxford University Press (OUP)}},

 url = {{https://eprints.whiterose.ac.uk/id/eprint/224138 }},

 year = {{2024}},

 month = {{12}},

 author = {{Aughey GN and Cali E and Maroofian R and Zaki MS and Pagnamenta AT and Ali Z and Abdulllah U and Rahman F and Menzies L and Shafique A and Suri M et al}},

 doi = {{10.1093/brain/awae363}},

 volume = {{148}},

 journal = {{Brain}},

 issue = {{4}},

 pages = {{1194-1211}},

 note = {{Accessed on 2026/01/25}}}