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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Copy-Number Variation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819617/
https://www.ncbi.nlm.nih.gov/pubmed/26747863
http://dx.doi.org/10.1136/jmedgenet-2015-103626

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819617/
https://www.ncbi.nlm.nih.gov/pubmed/26747863
http://dx.doi.org/10.1136/jmedgenet-2015-103626

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