@article{article, title = {{Expanding the phenotypic spectrum of HNRNPU-related disorder, documenting the first familial presentation and comprehensive review}}, publisher = {{Wiley}}, url = {{https://eprints.whiterose.ac.uk/id/eprint/223705 }}, year = {{2025}}, month = {{2}}, author = {{Hodgson AKO and Baxandall L and Aiyedun D and Li A and Au PYB and Bain JM and Gillentine MA and Goel H and Kline AD and Ricupero CL and Sánchez‐Carpintero R et al}}, doi = {{10.1002/ajmg.a.64013}}, journal = {{American Journal of Medical Genetics Part A}}, note = {{Accessed on 2025/04/05}}}