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Microduplications of ARID1Aand ARID1Bcause a novel clinical and epigenetic distinct BAFopathy
- Source :
- Genetics in Medicine; 20240101, Issue: Preprints
- Publication Year :
- 2024
-
Abstract
- ARID1A/ARID1Bhaploinsufficiency leads to Coffin-Siris syndrome, duplications of ARID1Alead to a distinct clinical syndrome, whilst ARID1Bduplications have not yet been linked to a phenotype.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Issue :
- Preprints
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs67555345
- Full Text :
- https://doi.org/10.1016/j.gim.2024.101283