De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms

Objective: The DYNC1H1 gene is related to a variety of diseases, including spinal muscular atrophy with lower extremity–predominant 1, Charcot–Marie–Tooth disease type 2O, and mental retardation, autosomal dominant13 (MRD13). Some patients with DYNC1H1 variant also had epilepsy. This study aimed to...

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Autores principales: Haipo Yang, Pan Gong, Xianru Jiao, Yue Niu, Qiujun Zhou, Yuehua Zhang, Zhixian Yang
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
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Acceso en línea:https://doaj.org/article/36e7ed4af9a74eb5b284249ce0de657d
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