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YAMAMOTO Toshiyuki
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor |
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| Article types | Case report |
| Language | English |
| Peer review | Peer reviewed |
| Title | Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, epilepsy, and early craniosynostosis |
| Journal | Formal name：Human Genome Variation Abbreviation：Hum Genome Var ISSN code：2054-345X |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 9,pp.43 |
| Author and coauthor | Eto K†, Machida O, Yanagishita T, Yamamoto Shimojima K, Chiba K, Aihara Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Nagata S, Toshiyuki Yamamoto T* |
| Authorship | Corresponding author |
| Publication date | 2022/12/05 |
| DOI | 10.1038/s41439-022-00220-x |