Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage

Duplication of chromosome 22q11.2 (LCR A-D) has been reported at higher frequencies in clinical samples than the general population, but phenotypes vary widely. Triplication (4 copies) is rare, but studying the associated phenotype may provide insight into dosage-sensitivity of the genes in this chr...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:NPJ Genom Med
Main Authors: Dale, Breanne, Modi, Bonnie MacKinnon, Jilderda, Sanne, McConnell, Beth, Hoang, Ny, Swaroop, Pooja, Falcon, Jhoan, Thiruvahindrapuram, Bhooma, Walker, Susan, Scherer, Stephen W., Stavropoulos, D. James, Drmic, Irene E., Carter, Melissa T.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5677976/
https://ncbi.nlm.nih.gov/pubmed/29263838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-017-0031-6
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados