|
Shimojima Keiko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Assistant Professor |
|
| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder |
| Journal | Formal name：Intractable & Rare Diseases Research Abbreviation：IRDR ISSN code：2186-3644 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 7(4),pp.245-250 |
| Author and coauthor | Imaizumi T, Kumakura A, Yamamoto-Shimojima K, Ondo Y, Yamamoto T |
| Publication date | 2018/12 |
| DOI | DOI: 10.5582/irdr.2018.01117 |