The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

PURPOSE: Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority of cases of European descent do not have an identified genetic trigger. METHODS: Exome s...

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Publicado no:Genet Med
Main Authors: Pinard, Amélie, Guey, Stéphanie, Guo, Dongchuan, Cecchi, Alana C., Kharas, Natasha, Wallace, Stephanie, Regalado, Ellen S., Hostetler, Ellen M., Sharrief, Anjail Z., Bergametti, Françoise, Kossorotoff, Manoelle, Hervé, Dominique, Kraemer, Markus, Bamshad, Michael J., Nickerson, Deborah A., Smith, Edward R., Tournier-Lasserve, Elisabeth, Milewicz, Dianna M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7673309/
https://ncbi.nlm.nih.gov/pubmed/31474762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0639-2
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