Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype

BACKGROUND: 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carriers have ASD, suggesting that additional genetic factors are necessary to manifes...

Full description

Saved in:
Bibliographic Details
Published in:Orphanet J Rare Dis
Main Authors: Qaiser, Farah, Yin, Yue, Mervis, Carolyn B., Morris, Colleen A., Klein-Tasman, Bonita P., Tam, Elaine, Osborne, Lucy R., Yuen, Ryan K. C.
Format: Artigo
Language:Inglês
Published: BioMed Central 2021
Subjects:
Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7788915/
https://ncbi.nlm.nih.gov/pubmed/33407644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01648-6
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items