Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome

BACKGROUND: Wolf–Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS. We hypothesised that the size and location of the deleted region may correlate with seizure presenta...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Ho, Karen S, South, Sarah T, Lortz, Amanda, Hensel, Charles H, Sdano, Mallory R, Vanzo, Rena J, Martin, Megan M, Peiffer, Andreas, Lambert, Christophe G, Calhoun, Amy, Carey, John C, Battaglia, Agatino
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2016
Assuntos:
Copy-Number Variation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4819617/
https://ncbi.nlm.nih.gov/pubmed/26747863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103626
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