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P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature
- Source :
- Genetics in Medicine Open, Vol 2, Iss , Pp 101494- (2024)
- Publication Year :
- 2024
- Publisher :
- Elsevier, 2024.
Details
- Language :
- English
- ISSN :
- 29497744
- Volume :
- 2
- Issue :
- 101494-
- Database :
- Directory of Open Access Journals
- Journal :
- Genetics in Medicine Open
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.f55f71aa0f3040a5a34c8dbdffa4fbb9
- Document Type :
- article
- Full Text :
- https://doi.org/10.1016/j.gimo.2024.101494