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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
- Source :
- Genetics in Medicine; November 2023, Vol. 25 Issue: 11
- Publication Year :
- 2023
-
Abstract
- Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 25
- Issue :
- 11
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs63703784
- Full Text :
- https://doi.org/10.1016/j.gim.2023.100950