Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability

Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability

Introduction:Nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) gene variants are associated with a range of phenotypes, including epilepsy, intellectual disability, cerebellar ataxia, Parkinson’s disease, dystonia, and congenital disorders of glycosylation. Additionally, cases describing genotype...

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Bibliographic Details
Main Authors: Ruolin Li, Jiayi Yang, Jinfeng Ma, Aimei Zhang, Hongfang Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Genetics
Subjects:
amino acid substitution
case report
exome sequencing
intellectual disability
epilepsy
tremor
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1373448/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1373448/full

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