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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: BMJ Publishing Group 2016
Subjects:
Copy-Number Variation
Online Access: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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