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A Twins Case of Lissencephaly With GPR56 Compound Heterozygous Mutations and Literatures Review

2021-01-14

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Lissencephaly (LIS) is a malformation of cortical development characterized by developmental delay and seizure in combination with wide gyrus, superficial sulcus, and thickened cortex. Up to date, 20 genes have been implicated in LIS. However, <italic>GRP56-</italic>related LIS has never been reported, which was considered one causative gene for bilateral fronto...

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Literature Corpus work
53cb9df7-89b8-53c6-a079-2e7ff9bff8ff
DOI
10.21203/rs.3.rs-144069/v1
Open publication

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