The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and un...

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Autori principali: Urraca, Nora, Cleary, Julie, Brewer, Victoria, Pivnick, Eniko K, McVicar, Kathryn, Thibert, Ronald L, Schanen, N Carolyn, Esmer, Carmen, Lamport, Dustin, Reiter, Lawrence T
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley Periodicals 2013
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Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3884762/
https://ncbi.nlm.nih.gov/pubmed/23495136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/aur.1284
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