A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly

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...

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Bibliographic Details
Main Authors: Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, Taichi Imaizumi, Satoru Nagata, Toshiyuki Yamamoto
Format: Article
Language:English
Published: Society of Tokyo Women's Medical University 2020-08-01
Series:Tokyo Women's Medical University Journal
Subjects:
agyria
west syndrome
miller-dieker syndrome
Online Access:https://www.jstage.jst.go.jp/article/twmuj/4/0/4_2020003/_pdf/-char/en

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