Article

A Case of Unilateral Closed-lip Schizencephaly Combined with Hypomyelination In Neonate

2023-03-28

Abstract excerpt

<h4>Background: </h4> Schizencephaly and hypomyelination are two different abnormity.Rarely study reports schizencephaly combined with hypomyelination. Case presentation: This study described a case of unilateral closed-lip schizencephaly combine with hypomyelination. This case with refractory epilepsy onset at earlier age and had poor prognosis. The novo GPSM2 c.1789T>C mutation was found in this case. GPSM2 c.1...

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Literature Corpus work: 7f94dd4e-2d61-5895-abc6-d7431ceb2427
DOI: 10.21203/rs.3.rs-2711185/v1

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