Adult-onset YY1-associated combined dystonia syndrome with infantile nystagmus as a diagnostic clue
Author:
Funder
Korea Ministry of Science and ICT
Ministry of Science, ICT and Future Planning
National Research Foundation of Korea
Korea Ministry of Education
Publisher
Elsevier BV
Reference10 articles.
1. A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation;Dos Santos;Metab. Brain Dis.,2022
2. YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction;Gabriele;Am. J. Hum. Genet.,2017
3. DNA methylation episignature in Gabriele-de Vries syndrome;Cherik;Genet. Med.,2022
4. Heterozygous YY1 mutation - a mimicker of SGCE-myoclonus-dystonia;Chawla;Parkinsonism Relat. Disorders,2023
5. YY1: a new gene for childhood onset dystonia with prominent oromandibular-laryngeal involvement?;Ferng;Mov. Disord.,2022
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