Publications by authors named "Megan Pries"
Article Synopsis
- Biallelic loss-of-function variants in the TBC1D2B gene have been linked to cognitive impairment and seizures in individuals, often accompanied by gingival overgrowth.
- This study reports on five new cases of TBC1D2B variants, including analysis of molecular and clinical features in a total of ten subjects, revealing different types of mutations and their impact on the TBC1D2B protein levels.
- The TBC1D2B disorder is characterized by progressive neurological decline, gingival overgrowth, and abnormal jaw morphology, potentially linked to defects in autophagy and the endolysosomal system affecting neuronal health.
