A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly
Lissencephaly is a severe brain malformation associated with abnormal formation of cerebral sulci. Until now, many genes related to lissencephaly have been identified. Among them, classical lissencephaly has been often related to the platelet activating factor acetylhydrolase 1B regulatory subunit 1...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Society of Tokyo Women's Medical University
2020-08-01
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| Series: | Tokyo Women's Medical University Journal |
| Subjects: | |
| Online Access: | https://www.jstage.jst.go.jp/article/twmuj/4/0/4_2020003/_pdf/-char/en |