Publications by authors named "Juliette Clorennec"
Eur J Hum Genet
August 2023
Article Synopsis
- Microduplications of the MYT1L gene are linked mainly to isolated schizophrenia, but detailed phenotypic characteristics are not well-defined due to limited reports.
- The study involved 16 new patients with 2p25.3 microduplications and reviewed 27 existing cases, revealing a wide range of clinical features including developmental delays, autism, intellectual disabilities, and schizophrenia.
- Findings indicate that MYT1L microduplications can vary significantly in expression and may be influenced by unknown genetic and environmental factors, helping clinicians with assessment and management.
