Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

Autor: Barkovich, Anthony, Sherr, Elliott, Sajan, SA, Fernandez, L, Nieh, SE, Rider, E, Bukshpun, P, Wakahiro, M, Christian, SL, Rivière, JB, Sullivan, CT, Sudi, J

Publikováno v: Barkovich, Anthony; Sherr, Elliott; Sajan, SA; Fernandez, L; Nieh, SE; Rider, E; et al.(2013). Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/7xk0p1w4

Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery eff

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::11aeb058be4eb3816c79ccb37c0b2ea1
http://www.escholarship.org/uc/item/7xk0p1w4

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