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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Опубликовано в: :J Med Genet
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Publishing Group 2016
Предметы:
Copy-Number Variation
Online-ссылка: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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