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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
- Source :
- Genetics in Medicine; August 2023, Vol. 25 Issue: 8
- Publication Year :
- 2023
-
Abstract
- Dominant variants in the retinoic acid receptor beta (RARB) gene underlie a syndromic form of microphthalmia, known as MCOPS12, which is associated with other birth anomalies and global developmental delay with spasticity and/or dystonia. Here, we report 25 affected individuals with 17 novel pathogenic or likely pathogenic variants in RARB. This study aims to characterize the functional impact of these variants and describe the clinical spectrum of MCOPS12.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 25
- Issue :
- 8
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs62867307
- Full Text :
- https://doi.org/10.1016/j.gim.2023.100856