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Biallelic variants in HECT E3 paralogs, HECTD4and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
- Source :
- Genetics in Medicine; February 2023, Vol. 25 Issue: 2
- Publication Year :
- 2023
-
Abstract
- Pathogenic variants in genes encoding ubiquitin E3 ligases are known to cause neurodevelopmental syndromes. Additional neurodevelopmental disorders associated with the other genes encoding E3 ligases are yet to be identified.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 25
- Issue :
- 2
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs61528281
- Full Text :
- https://doi.org/10.1016/j.gim.2022.10.006