Heterozygous YY1 mutation – A mimicker of SGCE-myoclonus-dystonia

Author:

Chawla TanushreeORCID,Kumar Natasha K.,Goyal VinayORCID

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference10 articles.

1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology;Richards;Genet. Med. Off. J. Am. Coll. Med. Genet.,2015

2. Phenomenology and classification of dystonia: a consensus update;Albanese;Mov. Disord. Off. J. Mov. Disord. Soc.,2013

3. YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction;Gabriele;Am. J. Hum. Genet.,2017

4. A de novo paradigm for mental retardation;Vissers;Nat. Genet.,2010

5. A case of YY1-related isolated dystonia with severe oromandibular involvement;Malaquias;Mov. Disord. Off. J. Mov. Disord. Soc.,2021

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Adult-onset YY1-associated combined dystonia syndrome with infantile nystagmus as a diagnostic clue;Parkinsonism & Related Disorders;2024-07

2. Myoclonus: an update;Current Opinion in Neurology;2024-05-24

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