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Biallelic truncating variants in MAPKAPK5cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
- Source :
- Genetics in Medicine; April 2021, Vol. 23 Issue: 4 p679-688, 10p
- Publication Year :
- 2021
-
Abstract
- This study aimed to identify the genetic cause of a new multiple congenital anomalies syndrome observed in three individuals from two unrelated families.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 23
- Issue :
- 4
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs63009256
- Full Text :
- https://doi.org/10.1038/s41436-020-01052-2