BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused b...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Dias, Cristina, Estruch, Sara B., Graham, Sarah A., McRae, Jeremy, Sawiak, Stephen J., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E., Fisher, Simon E., Logan, Darren W.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4974071/
https://ncbi.nlm.nih.gov/pubmed/27453576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.05.030
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados