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...

Descripción completa

Detalles Bibliográficos
Autores principales: Urraca, Nora, Cleary, Julie, Brewer, Victoria, Pivnick, Eniko K, McVicar, Kathryn, Thibert, Ronald L, Schanen, N Carolyn, Esmer, Carmen, Lamport, Dustin, Reiter, Lawrence T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals 2013
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884762/
https://www.ncbi.nlm.nih.gov/pubmed/23495136
http://dx.doi.org/10.1002/aur.1284

Ejemplares similares

Ejemplares similares