A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy

PURPOSE: Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific peptidase 2 (UFSP2), which participates in the UFMylation pathway of protein modification. UFSP2 variants are implicated in autosomal dominant skel...

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Vydáno v:Genet Med
Hlavní autoři: Ni, Min, Afroze, Bushra, Xing, Chao, Pan, Chunxiao, Shao, Yanqiu, Cai, Ling, Cantarel, Brandi L., Pei, Jimin, Grishin, Nick V., Hewson, Stacy, Knight, Devon, Mahida, Sonal, Michel, Donnice, Tarnopolsky, Mark, Poduri, Annapurna, Rotenberg, Alexander, Sondheimer, Neal, DeBerardinis, Ralph J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group US 2021
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8105169/
https://ncbi.nlm.nih.gov/pubmed/33473208
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-01071-z
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