Molecular Genetics & Genomic Medicine
Open Access Publication
Tinker, Rory J; Guess, Tiffany; Rinker, David C; Sheehan, Jonathan H; Lubarsky, Daniel; Porath, Binu; Mosera, Mackenzie; Mayo, Ping; Solem, Emily; Lee, Laura A; Sharam, Asha; and Brault, Jennifer, "A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype." Molecular Genetics & Genomic Medicine. 10, 12. e2054 (2022).