由TNRC6B基因致病性变异引起的癫痫和自闭症谱系障碍。 - Suppr

Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B.

作者信息

Bellido-Cuéllar Sara, Pérez de la Fuente Rubén, Lezana-Rosales José Miguel, Sánchez-Calvín Maria Teresa, Saiz-Díaz Rosa Ana, González de la Aleja Jesús

机构信息

Epilepsy Unit, Neurology Department, 12 de Octubre University Hospital, Madrid, Spain.

Department of Genetics. UDISGEN-Unidad de Dismorfología y Genética, 12 de Octubre University Hospital, Madrid, Spain.

出版信息

Seizure. 2023 Aug;110:117-118. doi: 10.1016/j.seizure.2023.06.008. Epub 2023 Jun 10.

DOI:10.1016/j.seizure.2023.06.008

PMID:37348364

Abstract

摘要

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Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B.

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