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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6Avariants causing X-linked Kabuki syndrome type 2
- Source :
- Genetics in Medicine; July 2021, Vol. 23 Issue: 7 p1202-1210, 9p
- Publication Year :
- 2021
-
Abstract
- The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 23
- Issue :
- 7
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs59917395
- Full Text :
- https://doi.org/10.1038/s41436-021-01119-8