CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree

Although deletions of CHRNA7 have been associated with intellectual disability (ID), seizures and neuropsychiatric phenotypes, the pathogenicity of CHRNA7 duplications has been uncertain. We present the first report of CHRNA7 triplication. Three generations of a family affected with various neuropsy...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Soler-Alfonso, Claudia, Carvalho, Claudia MB, Ge, Jun, Roney, Erin K, Bader, Patricia I, Kolodziejska, Katarzyna E, Miller, Rachel M, Lupski, James R, Stankiewicz, Pawel, Cheung, Sau Wai, Bi, Weimin, Schaaf, Christian P
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2014
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4135413/
https://ncbi.nlm.nih.gov/pubmed/24424125
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.302
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker