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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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
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Article
Acesso em linha: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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