Publications by authors named "Lauren Garrity"
Am J Med Genet A
July 2020
Article Synopsis
- Intellectual disability (ID) is a complex condition with uncertain causes, but advancements in genetic diagnostics have revealed some underlying genetic factors.
- Researchers identified de novo mutations in the TRIP12 gene in two unrelated patients, both diagnosed with global developmental delay and autism spectrum disorder, highlighting diverse symptoms associated with these mutations.
- The study emphasizes that variations in the TRIP12 gene can lead to different presentations of ID, including speech delay and epilepsy in some cases, underscoring the importance of genetic analysis in understanding ID.
