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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Bibliografski detalji
Izdano u:J Med Genet
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2016
Teme:
Copy-Number Variation
Online pristup: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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