Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant
Mol Genet Genomic Med. 2025 Mar;13(3):e70084. doi: 10.1002/mgg3.70084. ABSTRACT BACKGROUND: While recently identified heterozygous PRPF8 variants have been linked to various human diseases, their role …