Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case Report

Background: Gene variants of ADP-ribosylserine hydrosylase, also known as ADP-ribosylhydrolase-like 2 (ADPRS or ADPRLH2; OMIM: 610624), can cause stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS, OMIM: 618170), an ultra-rare neurodegenerative autosomal rec...

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Detalles Bibliográficos
Autores principales: Ma, Jiehui, Qian, Qiaoqiao, Yan, Shuang, Dou, Haoyu, Li, Cheng, Sun, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9160522/
https://www.ncbi.nlm.nih.gov/pubmed/35664652
http://dx.doi.org/10.3389/fgene.2021.788702

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9160522/
https://www.ncbi.nlm.nih.gov/pubmed/35664652
http://dx.doi.org/10.3389/fgene.2021.788702

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