Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing

Brain arteriovenous malformations (AVMs) are abnormal connections between arteries and veins that can result in hemorrhagic stroke. A genetic basis for AVMs is suspected, and we investigated potential mutations in a 14-year-old girl who developed a recurrent brain AVM. Whole-exome sequencing (WES) o...

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Publicado en:Hum Genome Var
Autores principales: Walcott, Brian P, Winkler, Ethan A, Zhou, Sirui, Birk, Harjus, Guo, Diana, Koch, Matthew J, Stapleton, Christopher J, Spiegelman, Dan, Dionne-Laporte, Alexandre, Dion, Patrick A, Kahle, Kristopher T, Rouleau, Guy A, Lawton, Michael T
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5966745/
https://ncbi.nlm.nih.gov/pubmed/29844917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2018.1
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