Expanded genetic insight and clinical experience of DNMT1-complex disorder

OBJECTIVE: To report novel causal mutations, expanded clinical phenotypes, and clinical management of DNA methyltransferase 1 (DNMT1)-complex disorder. METHODS: Neurophysiologic testing, imaging, and genetic findings were summarized in clinical context for 5 cases with DNMT1-complex disorder. RESULT...

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Detalles Bibliográficos
Autores principales: Bi, Hongyan, Hojo, Kaori, Watanabe, Masashi, Yee, Christina, Maski, Kiran, Saba, Sadaf, Graff-Radford, Jonathan, Machulda, Mary M., St Louis, Erik K., Humes, Ilona Spitsyna, Flanagan, Eoin P., Nicolau, Stefan, Jones, David T., Patterson, Marc C., Kotagal, Suresh, Raz, Yael, Niu, Zhiyv, Li, Jun, Klein, Christopher J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357420/
https://www.ncbi.nlm.nih.gov/pubmed/32754641
http://dx.doi.org/10.1212/NXG.0000000000000456

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357420/
https://www.ncbi.nlm.nih.gov/pubmed/32754641
http://dx.doi.org/10.1212/NXG.0000000000000456

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