TY - JOUR T1 - Expanding the phenotypic spectrum of HNRNPU-related disorder, documenting the first familial presentation and comprehensive review JO - American Journal of Medical Genetics Part A UR - https://eprints.whiterose.ac.uk/id/eprint/223705 PY - 2025/02/20 AU - Hodgson AKO AU - Baxandall L AU - Aiyedun D AU - Li A AU - Au PYB AU - Bain JM AU - Gillentine MA AU - Goel H AU - Kline AD AU - Ricupero CL AU - Sánchez‐Carpintero R et al ED - DO - DOI: 10.1002/ajmg.a.64013 PB - Wiley Y2 - 2025/04/05 ER -