article_metadata: Erika Nicole Dreikorn Christine Munro Natasha Robin Berman Amina Kunovac Daniel Bellissimo Mylynda B Massart
article_metadata: 10.3389/fgene.2024.1380552
article_metadata: Front Genet
article_metadata: 2024 May 23:15:1380552.
article_metadata: hnrnpu gene mutation clinical utility diagnostic odyssey genome sequencing technologies interdisciplinary collaboration neurodevelopmental disorder (ndd) precision medicine whole exome sequencing (wes)
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38846959/
article_metadata: Case Reports
article_metadata: PMC11153700
article_metadata: 38846959
article_metadata: Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis
article_metadata: 2024