Rare and de novo coding variants in chromodomain genes in Chiari I malformation

Chiari I malformation (CM1), the displacement of the cerebellum through the foramen magnum into the spinal canal, is one of the most common pediatric neurological conditions. Individuals with CM1 can present with neurological symptoms, including severe headaches and sensory or motor deficits, often...

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書誌詳細
出版年:Am J Hum Genet
主要な著者: Sadler, Brooke, Wilborn, Jackson, Antunes, Lilian, Kuensting, Timothy, Hale, Andrew T., Gannon, Stephen R., McCall, Kevin, Cruchaga, Carlos, Harms, Matthew, Voisin, Norine, Reymond, Alexandre, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Tartaglia, Marco, Niceta, Marcello, Leoni, Chiara, Zampino, Giuseppe, Ashley-Koch, Allison, Urbizu, Aintzane, Garrett, Melanie E., Soldano, Karen, Macaya, Alfons, Conrad, Donald, Strahle, Jennifer, Dobbs, Matthew B., Turner, Tychele N., Shannon, Chevis N., Brockmeyer, Douglas, Limbrick, David D., Gurnett, Christina A., Haller, Gabe
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2021
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7820723/
https://ncbi.nlm.nih.gov/pubmed/33352116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.12.001
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